1-11591617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591617
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591617
    reference: chr 1
allele count: 4
allele frequency: 3.394951706811971e-5
allele num: 117822
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3230-5C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3230-5C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4321
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 29759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9093
  bin: 6.75e1
  variant carriers: 0
hgvs: c.3230-5C>T
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6392
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

1-11591618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591618
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591618
    reference: chr 1
allele count: 54
allele frequency: 4.58341821144836e-4
allele num: 117816
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3230-4G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3230-4G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22821
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12429
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 9.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 29397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9060
  bin: 6.75e1
  variant carriers: 0
hgvs: c.3230-4G>A
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8534
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-11591618-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591618
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591618
    reference: chr 1
allele count: 1
allele frequency: 8.487811502682149e-6
allele num: 117816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3230-4G>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3230-4G>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 8.25e1
  variant carriers: 0
hgvs: c.3230-4G>T
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.084205402774397e-5
  allele num: 16436
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-11591623-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591623
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591623
    reference: chr 1
allele count: 4
allele frequency: 3.389485815001864e-5
allele num: 118012
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3231C>G
  hgvsp: ENST00000294484.6:c.3231C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3231C>G
  hgvsp: ENST00000389575.3:c.3231C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4010
  bin: 7.75e1
  variant carriers: 0
hgvs: c.3231C>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-11591623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591623
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591623
    reference: chr 1
allele count: 2
allele frequency: 1.694742907500932e-5
allele num: 118012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3231C>T
  hgvsp: ENST00000389575.3:c.3231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3231C>T
  hgvsp: ENST00000294484.6:c.3231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.75e1
  variant carriers: 0
hgvs: c.3231C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-11591625-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591625
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591625
    reference: chr 1
allele count: 1
allele frequency: 8.471991595784337e-6
allele num: 118036
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3233A>G
  hgvsp: ENSP00000294484.6:p.Tyr1078Cys
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3233A>G
  hgvsp: ENSP00000374226.3:p.Tyr1078Cys
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr1078Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8538
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS

1-11591631-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591631
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591628
    reference: chr 1
allele count: 2
allele frequency: 1.692133272416535e-5
allele num: 118194
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3245_3247delCCT
  hgvsp: ENSP00000294484.6:p.Ser1082del
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3245_3247delCCT
  hgvsp: ENSP00000374226.3:p.Ser1082del
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1082del
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11482
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: TCTC
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-11591655-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591655
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591656
    reference: chr 1
allele count: 1
allele frequency: 8.441953130276222e-6
allele num: 118456
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3266dupC
  hgvsp: ENSP00000374226.3:p.Glu1090Ter
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3266dupC
  hgvsp: ENSP00000294484.6:p.Glu1090Ter
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4297
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu1090Ter
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11484
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-11591665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591665
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591665
    reference: chr 1
allele count: 6
allele frequency: 5.064744314824507e-5
allele num: 118466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3273C>T
  hgvsp: ENST00000389575.3:c.3273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3273C>T
  hgvsp: ENST00000294484.6:c.3273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys1091Cys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11484
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-11591669-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591669
    reference: chr 1
allele count: 1
allele frequency: 8.445517963616709e-6
allele num: 118406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3277G>C
  hgvsp: ENSP00000374226.3:p.Glu1093Gln
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3277G>C
  hgvsp: ENSP00000294484.6:p.Glu1093Gln
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4292
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1093Gln
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.706251088281386e-5
  allele num: 11486
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-11591673-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591673
    reference: chr 1
allele count: 1
allele frequency: 8.442380751371886e-6
allele num: 118450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3281T>C
  hgvsp: ENSP00000374226.3:p.Leu1094Pro
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3281T>C
  hgvsp: ENSP00000294484.6:p.Leu1094Pro
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1094Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16454
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-11591674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591674
    reference: chr 1
allele count: 169
allele frequency: 1.427147899812528e-3
allele num: 118418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3282G>A
  hgvsp: ENST00000389575.3:c.3282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3282G>A
  hgvsp: ENST00000294484.6:c.3282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 12127
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 23018
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8840
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4393
  bin: 9.75e1
  variant carriers: 167
hgvs: p.Leu1094Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 121
  allele frequency: 1.272077375946173e-2
  allele num: 9512
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-11591677-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591677
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591677
    reference: chr 1
allele count: 3
allele frequency: 2.535111291385692e-5
allele num: 118338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3285C>G
  hgvsp: ENST00000389575.3:c.3285C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3285C>G
  hgvsp: ENST00000294484.6:c.3285C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro1095Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16440
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

1-11591677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591677
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591677
    reference: chr 1
allele count: 1
allele frequency: 8.450370971285639e-6
allele num: 118338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3285C>T
  hgvsp: ENST00000294484.6:c.3285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3285C>T
  hgvsp: ENST00000389575.3:c.3285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1095Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 872
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-11591678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591678
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591678
    reference: chr 1
allele count: 3
allele frequency: 2.533869387479307e-5
allele num: 118396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3286G>A
  hgvsp: ENSP00000294484.6:p.Glu1096Lys
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3286G>A
  hgvsp: ENSP00000374226.3:p.Glu1096Lys
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23092
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu1096Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8560
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

1-11591681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591681
    reference: chr 1
allele count: 1
allele frequency: 8.448371998715848e-6
allele num: 118366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3289C>T
  hgvsp: ENSP00000374226.3:p.Pro1097Ser
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3289C>T
  hgvsp: ENSP00000294484.6:p.Pro1097Ser
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8783
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1097Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 874
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

1-11591685-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591685
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591685
    reference: chr 1
allele count: 2
allele frequency: 1.690474178006931e-5
allele num: 118310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3293A>G
  hgvsp: ENSP00000374226.3:p.Asn1098Ser
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3293A>G
  hgvsp: ENSP00000294484.6:p.Asn1098Ser
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn1098Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.712319219376198e-5
  allele num: 11478
  num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

1-11591688-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591688
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591688
    reference: chr 1
allele count: 1
allele frequency: 8.455658526686058e-6
allele num: 118264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3296T>G
  hgvsp: ENSP00000374226.3:p.Leu1099Arg
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3296T>G
  hgvsp: ENSP00000294484.6:p.Leu1099Arg
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1099Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8558
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-11591694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591694
    reference: chr 1
allele count: 6
allele frequency: 5.079752108097125e-5
allele num: 118116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3302C>T
  hgvsp: ENSP00000374226.3:p.Pro1101Leu
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3302C>T
  hgvsp: ENSP00000294484.6:p.Pro1101Leu
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11926
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro1101Leu
num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9480
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-11591695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591695
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591695
    reference: chr 1
allele count: 39
allele frequency: 3.300888700804062e-4
allele num: 118150
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3303G>A
  hgvsp: ENST00000294484.6:c.3303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3303G>A
  hgvsp: ENST00000389575.3:c.3303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23322
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11932
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4255
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1101Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8556
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-11591698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591698
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591698
    reference: chr 1
allele count: 1
allele frequency: 8.459950593888532e-6
allele num: 118204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3306G>A
  hgvsp: ENST00000389575.3:c.3306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3306G>A
  hgvsp: ENST00000294484.6:c.3306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1102Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65188
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-11591709-A-ACGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591709
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591713
    reference: chr 1
allele count: 1
allele frequency: 8.483922965979469e-6
allele num: 117870
alternate allele: ACGGG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3318_3321dupCGGG
  hgvsp: ENSP00000294484.6:p.Ala1108ArgfsTer277
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3318_3321dupCGGG
  hgvsp: ENSP00000374226.3:p.Ala1108ArgfsTer277
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30938
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1108ArgfsTer277
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6330
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-11591710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591710
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591710
    reference: chr 1
allele count: 3
allele frequency: 2.54664606712959e-5
allele num: 117802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3318C>T
  hgvsp: ENST00000389575.3:c.3318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3318C>T
  hgvsp: ENST00000294484.6:c.3318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23346
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His1106His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11484
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-11591713-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591713
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591713
    reference: chr 1
allele count: 10
allele frequency: 8.499932000543996e-5
allele num: 117648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3321G>A
  hgvsp: ENST00000389575.3:c.3321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3321G>A
  hgvsp: ENST00000294484.6:c.3321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11891
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1107Gly
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8552
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-11591715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591715
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591715
    reference: chr 1
allele count: 1
allele frequency: 8.51397142711189e-6
allele num: 117454
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3323C>T
  hgvsp: ENSP00000294484.6:p.Ala1108Val
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3323C>T
  hgvsp: ENSP00000374226.3:p.Ala1108Val
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1108Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6316
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

1-11591719-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591719
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591719
    reference: chr 1
allele count: 1
allele frequency: 8.518322912584971e-6
allele num: 117394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3327G>T
  hgvsp: ENST00000294484.6:c.3327G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3327G>T
  hgvsp: ENST00000389575.3:c.3327G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val1109Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8552
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-11591722-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591722
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591722
    reference: chr 1
allele count: 1
allele frequency: 8.531986417077625e-6
allele num: 117206
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3330C>T
  hgvsp: ENST00000294484.6:c.3330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3330C>T
  hgvsp: ENST00000389575.3:c.3330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1110Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9544
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-11591723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591723
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591723
    reference: chr 1
allele count: 5
allele frequency: 4.269198586041428e-5
allele num: 117118
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3331G>A
  hgvsp: ENSP00000294484.6:p.Val1111Ile
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3331G>A
  hgvsp: ENSP00000374226.3:p.Val1111Ile
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1111Ile
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8548
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-11591732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591732
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591732
    reference: chr 1
allele count: 2
allele frequency: 1.719897494109351e-5
allele num: 116286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3340G>A
  hgvsp: ENSP00000374226.3:p.Gly1114Ser
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3340G>A
  hgvsp: ENSP00000294484.6:p.Gly1114Ser
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11587
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1114Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.541307028360049e-5
  allele num: 64880
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-11591733-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591734
    reference: chr 1
allele count: 1
allele frequency: 8.609111884018045e-6
allele num: 116156
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3343dupC
  hgvsp: ENSP00000374226.3:p.Arg1115ProfsTer269
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3343dupC
  hgvsp: ENSP00000294484.6:p.Arg1115ProfsTer269
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1115ProfsTer269
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 846
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum

1-11591733-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591733
    reference: chr 1
allele count: 1
allele frequency: 8.609111884018045e-6
allele num: 116156
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3341G>T
  hgvsp: ENSP00000294484.6:p.Gly1114Val
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3341G>T
  hgvsp: ENSP00000374226.3:p.Gly1114Val
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly1114Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14584
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

1-11591735-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591735
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591735
    reference: chr 1
allele count: 1
allele frequency: 8.620986930583814e-6
allele num: 115996
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3343C>G
  hgvsp: ENSP00000294484.6:p.Arg1115Gly
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3343C>G
  hgvsp: ENSP00000374226.3:p.Arg1115Gly
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1115Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.542686125080991e-5
  allele num: 64822
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-11591736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591736
    reference: chr 1
allele count: 2
allele frequency: 1.726131911000639e-5
allele num: 115866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3344G>A
  hgvsp: ENSP00000374226.3:p.Arg1115His
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3344G>A
  hgvsp: ENSP00000294484.6:p.Arg1115His
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1115His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8552
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-11591737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591737
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591737
    reference: chr 1
allele count: 8
allele frequency: 6.907866332786461e-5
allele num: 115810
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3345C>T
  hgvsp: ENST00000294484.6:c.3345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3345C>T
  hgvsp: ENST00000389575.3:c.3345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22100
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1115Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64788
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

1-11591738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591738
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591738
    reference: chr 1
allele count: 4
allele frequency: 3.45447008428907e-5
allele num: 115792
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3346G>A
  hgvsp: ENSP00000294484.6:p.Val1116Met
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3346G>A
  hgvsp: ENSP00000374226.3:p.Val1116Met
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val1116Met
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 840
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-11591741-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591741
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591741
    reference: chr 1
allele count: 2
allele frequency: 1.732681844959629e-5
allele num: 115428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3349C>G
  hgvsp: ENSP00000374226.3:p.Gln1117Glu
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3349C>G
  hgvsp: ENSP00000294484.6:p.Gln1117Glu
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln1117Glu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.092050338579512e-5
  allele num: 64682
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-11591742-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591742
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591742
    reference: chr 1
allele count: 1
allele frequency: 8.657109218089895e-6
allele num: 115512
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3350A>T
  hgvsp: ENSP00000294484.6:p.Gln1117Leu
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3350A>T
  hgvsp: ENSP00000374226.3:p.Gln1117Leu
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8328
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln1117Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.544878727019929e-5
  allele num: 64730
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

1-11591749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591749
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591749
    reference: chr 1
allele count: 3
allele frequency: 2.613012803762738e-5
allele num: 114810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3357C>T
  hgvsp: ENST00000389575.3:c.3357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3357C>T
  hgvsp: ENST00000294484.6:c.3357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ile1119Ile
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.648424184201555e-5
  allele num: 64538
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-11591756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591756
    reference: chr 1
allele count: 12
allele frequency: 1.053944386867853e-4
allele num: 113858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3364G>A
  hgvsp: ENSP00000374226.3:p.Ala1122Thr
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3364G>A
  hgvsp: ENSP00000294484.6:p.Ala1122Thr
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 28744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1122Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6222
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-11591759-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591759
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591759
    reference: chr 1
allele count: 1
allele frequency: 8.839857147908491e-6
allele num: 113124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3367T>C
  hgvsp: ENSP00000374226.3:p.Phe1123Leu
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3367T>C
  hgvsp: ENSP00000294484.6:p.Phe1123Leu
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe1123Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11452
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-11591761-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591761
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591761
    reference: chr 1
allele count: 1
allele frequency: 8.864462370357237e-6
allele num: 112810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3369C>T
  hgvsp: ENST00000389575.3:c.3369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3369C>T
  hgvsp: ENST00000294484.6:c.3369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe1123Phe
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64040
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-11591766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591766
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591766
    reference: chr 1
allele count: 1
allele frequency: 8.916152501872391e-6
allele num: 112156
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3374C>T
  hgvsp: ENSP00000294484.6:p.Ser1125Leu
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3374C>T
  hgvsp: ENSP00000374226.3:p.Ser1125Leu
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1125Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-11591782-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591782
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591782
    reference: chr 1
allele count: 2
allele frequency: 1.820498816675769e-5
allele num: 109860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+15C>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+15C>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6092
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff

1-11591782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591782
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591782
    reference: chr 1
allele count: 1
allele frequency: 9.102494083378845e-6
allele num: 109860
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+15C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+15C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63250
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

1-11591785-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591785
    reference: chr 1
allele count: 2
allele frequency: 1.828688464633165e-5
allele num: 109368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+18C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+18C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6078
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

1-11591796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591796
    reference: chr 1
allele count: 1
allele frequency: 9.228497600590624e-6
allele num: 108360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+29A>G
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+29A>G
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19016
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4194
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9456
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-11591799-CTGCGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591799
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591794
    reference: chr 1
allele count: 10
allele frequency: 9.254460650033316e-5
allele num: 108056
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+33_3375+37delTGCGT
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+33_3375+37delTGCGT
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18325
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10546
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4201
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 22770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6014
  num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: CTGCGT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-11591800-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591800
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591800
    reference: chr 1
allele count: 1
allele frequency: 9.264406151565684e-6
allele num: 107940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+33T>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+33T>C
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 742
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

1-11591801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591801
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591801
    reference: chr 1
allele count: 1
allele frequency: 9.267668810587385e-6
allele num: 107902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+34G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+34G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9266
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

1-11591802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591802
    reference: chr 1
allele count: 4
allele frequency: 3.721207159602575e-5
allele num: 107492
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+35C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+35C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4194
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11310
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

1-11591803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591803
    reference: chr 1
allele count: 1
allele frequency: 9.298865538404315e-6
allele num: 107540
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+36G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+36G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16304
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4194
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5944
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-11591803-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591803
    reference: chr 1
allele count: 5
allele frequency: 4.649432769202157e-5
allele num: 107540
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+36G>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+36G>C
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9941
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16304
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4194
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 5
  allele frequency: 5.934013766911939e-4
  allele num: 8426
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-11591804-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591804
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591804
    reference: chr 1
allele count: 973
allele frequency: 9.045609207370358e-3
allele num: 107566
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+37T>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+37T>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 1.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9839
  bin: 3.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16254
  bin: 2.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 1.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 2.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 4.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6336
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 9.75e1
  variant carriers: 907
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19561
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 2.75e1
  variant carriers: 2
num of homozygotes: 36
population: African
  type: Population
  allele count: 902
  allele frequency: 9.593703467347373e-2
  allele num: 9402
  num of homozygotes: 36
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

1-11591812-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591812
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591812
    reference: chr 1
allele count: 5
allele frequency: 4.694747516478564e-5
allele num: 106502
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+45C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+45C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12704
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11294
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-11591813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591813
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591813
    reference: chr 1
allele count: 2
allele frequency: 1.878604572523529e-5
allele num: 106462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+46G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+46G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12722
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5675
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8876
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

1-11591814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591814
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591814
    reference: chr 1
allele count: 3
allele frequency: 2.81579095567945e-5
allele num: 106542
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+47G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+47G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12425
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3680
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13660
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9290
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

1-11591814-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591814
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591814
    reference: chr 1
allele count: 1
allele frequency: 9.385969852264834e-6
allele num: 106542
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+47G>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+47G>C
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3680
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8374
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

1-11591816-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11591816
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11591816
    reference: chr 1
allele count: 1
allele frequency: 9.389671361502347e-6
allele num: 106500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3375+49G>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3375+49G>C
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4086
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5601
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8876
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-11593802-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11593802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11593802
    reference: chr 1
allele count: 1
allele frequency: 5.94106463878327e-5
allele num: 16832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-636A>G
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.-49A>G
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-636A>G
  variant of: http://identifiers.org/hgnc/29251
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 2.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-11593805-C-CACACAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11593805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11593811
    reference: chr 1
allele count: 1
allele frequency: 5.701254275940707e-5
allele num: 17540
alternate allele: CACACAT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-633_3376-632insACACAT
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.-46_-45insACACAT
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-633_3376-632insACACAT
  variant of: http://identifiers.org/hgnc/29251
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-11593806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11593806
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11593806
    reference: chr 1
allele count: 2
allele frequency: 1.148897058823529e-4
allele num: 17408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.-45G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-632G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-632G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

1-11593809-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11593809
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11593809
    reference: chr 1
allele count: 1
allele frequency: 5.844535359438925e-5
allele num: 17110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-629G>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-629G>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.-42G>C
  variant of: http://identifiers.org/hgnc/29251
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-11593811-C-CACACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11593811
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11593816
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 17588
alternate allele: CACACA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-627_3376-626insACACA
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-627_3376-626insACACA
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.-40_-39insACACA
  variant of: http://identifiers.org/hgnc/29251
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/1-11593812-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11593812
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11593812
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 17240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-626C>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-626C>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.-39C>A
  variant of: http://identifiers.org/hgnc/29251
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-11593813-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11593813
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11593813
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 17244
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-625T>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.-38T>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-625T>C
  variant of: http://identifiers.org/hgnc/29251
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

1-11593817-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11593817
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11593817
    reference: chr 1
allele count: 16
allele frequency: 9.218713989398478e-4
allele num: 17356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.-34A>G
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-621A>G
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-621A>G
  variant of: http://identifiers.org/hgnc/29251
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-11593829-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11593829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11593829
    reference: chr 1
allele count: 8
allele frequency: 4.675081813931744e-4
allele num: 17112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-609G>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-609G>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.-22G>T
  variant of: http://identifiers.org/hgnc/29251
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

1-11593889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11593889
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11593889
    reference: chr 1
allele count: 1
allele frequency: 5.819366852886406e-5
allele num: 17184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-549G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.34+5G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-549G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.75e1
  variant carriers: 0
hgvs: c.34+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-11593927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11593927
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11593927
    reference: chr 1
allele count: 1
allele frequency: 5.907372400756144e-5
allele num: 16928
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-511C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.34+43C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-511C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-11593934-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11593934
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11593934
    reference: chr 1
allele count: 1
allele frequency: 5.925574780753733e-5
allele num: 16876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.34+50G>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-504G>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-504G>C
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-11594387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11594387
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11594387
    reference: chr 1
allele count: 1
allele frequency: 8.317530026283395e-6
allele num: 120228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.35-51G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-51G>A
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-51G>A
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-11594390-T-TGGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11594390
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11594394
    reference: chr 1
allele count: 1
allele frequency: 8.319052293562717e-6
allele num: 120206
alternate allele: TGGGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-47_3376-44dupGGGC
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.35-47_35-44dupGGGC
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-47_3376-44dupGGGC
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-11594394-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11594394
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11594394
    reference: chr 1
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.35-44C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-44C>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-44C>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23212
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

1-11594398-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11594398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11594398
    reference: chr 1
allele count: 6
allele frequency: 4.983057604145904e-5
allele num: 120408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-40A>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.35-40A>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-40A>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-11594400-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11594400
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11594400
    reference: chr 1
allele count: 54466
allele frequency: 4.528568577890116e-1
allele num: 120272
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-38T>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.35-38T>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-38T>C
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 6.25e1
  variant carriers: 2860
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 5.75e1
  variant carriers: 3630
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 3.75e1
  variant carriers: 4156
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 6.75e1
  variant carriers: 2090
genotype depth: GenotypeDepth
  all individuals: 12411
  bin: 2.75e1
  variant carriers: 2333
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 7.25e1
  variant carriers: 1572
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 3.25e1
  variant carriers: 3455
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 2.25e1
  variant carriers: 1261
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 484
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 497
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 4.75e1
  variant carriers: 4423
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 2207
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 1090
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 4.25e1
  variant carriers: 4619
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 5.25e1
  variant carriers: 4117
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.25e1
  variant carriers: 752
genotype quality: GenotypeQuality
  all individuals: 14104
  bin: 6.25e1
  variant carriers: 188
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
  variant carriers: 415
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 248
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.25e1
  variant carriers: 194
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 259
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 9.25e1
  variant carriers: 529
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 321
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 37823
  bin: 9.75e1
  variant carriers: 37467
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 96
num of homozygotes: 14456
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-11594405-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11594405
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11594405
    reference: chr 1
allele count: 3
allele frequency: 2.488593944421402e-5
allele num: 120550
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-33G>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.35-33G>T
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-33G>T
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-11594412-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11594412
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 11594412
    reference: chr 1
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000303400
  ensembl transcript: ENST00000304391
  gene symbol: PTCHD2
  hgvsc: ENST00000304391.6:c.35-26T>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000374226
  ensembl transcript: ENST00000389575
  gene symbol: PTCHD2
  hgvsc: ENST00000389575.3:c.3376-26T>C
  variant of: http://identifiers.org/hgnc/29251
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204624
  ensembl protein: ENSP00000294484
  ensembl transcript: ENST00000294484
  gene symbol: PTCHD2
  hgvsc: ENST00000294484.6:c.3376-26T>C
  variant of: http://identifiers.org/hgnc/29251
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.09052137095528e-5
allele num: 64714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 2.735e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 1.108e0

DP
type: SiteQuality
SIO_000300: 1.734532e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

South Asian
type: Population
allele count: 2
allele frequency: 1.216841080554879e-4
allele num: 16436
num of homozygotes: 0

African
type: Population
allele count: 46
allele frequency: 4.892576047649437e-3
allele num: 9402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.614151272220286e-4
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.636211905792174e-5
allele num: 64708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.25e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

FS
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 1.736611e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.25e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 1.736611e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.169983032546661e-5
allele num: 64830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.17e1

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.255e0

DP
type: SiteQuality
SIO_000300: 1.737005e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.376e0

South Asian
type: Population
allele count: 2
allele frequency: 1.214919207872676e-4
allele num: 16462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.737005e6

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 2.255e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.376e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54206760424377e-5
allele num: 64848
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.323e0

DP
type: SiteQuality
SIO_000300: 1.737845e6

VQSLOD
type: SiteQuality
SIO_000300: -1.705e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.898e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.28e-1

QD
type: SiteQuality
SIO_000300: 8.67e0

FS
type: SiteQuality
SIO_000300: 2.82e0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539171925504079e-5
allele num: 64970
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

DP
type: SiteQuality
SIO_000300: 1.740465e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.59e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.782e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.436e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.302e0

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

DP
type: SiteQuality
SIO_000300: 1.742371e6

East Asian
type: Population
allele count: 6
allele frequency: 7.019185774450163e-4
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65212
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.417e0

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

DP
type: SiteQuality
SIO_000300: 1.739059e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.232e0

QD
type: SiteQuality
SIO_000300: 1.581e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.736091e6

FS
type: SiteQuality
SIO_000300: 1.229e0

MQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533507130808158e-5
allele num: 65210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.091e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.444e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 1.735522e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-3

QD
type: SiteQuality
SIO_000300: 1.204e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.216484089723526e-4
allele num: 65178
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.836990595611285e-4
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.293577981651376e-3
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.823043266893534e-4
allele num: 16456
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.852e0

VQSLOD
type: SiteQuality
SIO_000300: 6.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.737003e6

QD
type: SiteQuality
SIO_000300: 1.345e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65150
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.506311360448808e-4
allele num: 8556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.343e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.194e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 1.733593e6

FS
type: SiteQuality
SIO_000300: 1.026e0

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65150
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.026e0

DP
type: SiteQuality
SIO_000300: 1.733593e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.194e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

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

African
type: Population
allele count: 1
allele frequency: 1.052853232259423e-4
allele num: 9498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534024667116647e-5
allele num: 65188
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.733762e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

QD
type: SiteQuality
SIO_000300: 1.366e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 1.727e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533977603926983e-5
allele num: 65190
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.157e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: -2.382e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.733336e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.371e0

FS
type: SiteQuality
SIO_000300: 4.301e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.227e0

VQSLOD
type: SiteQuality
SIO_000300: -1.171e0

East Asian
type: Population
allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

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: 6342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65168
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

FS
type: SiteQuality
SIO_000300: 3.838e0

DP
type: SiteQuality
SIO_000300: 1.732431e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

QD
type: SiteQuality
SIO_000300: 1.525e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53444836581249e-5
allele num: 65170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
SIO_000300: -1.345e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.351e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.123e0

DP
type: SiteQuality
SIO_000300: 1.732467e6

South Asian
type: Population
allele count: 6
allele frequency: 3.679175864606328e-4
allele num: 16308
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65096
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 8.98e-1

DP
type: SiteQuality
SIO_000300: 1.733846e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.759e-1

QD
type: SiteQuality
SIO_000300: 1.899e1

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65142
num of homozygotes: 0

South Asian
type: Population
allele count: 38
allele frequency: 2.333292398378976e-3
allele num: 16286
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.824e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

DP
type: SiteQuality
SIO_000300: 1.734356e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.144770800049158e-5
allele num: 16274
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -6.106e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.252e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.126e0

QD
type: SiteQuality
SIO_000300: 1.063e1

DP
type: SiteQuality
SIO_000300: 1.733259e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536145503702111e-5
allele num: 65098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.578e1

FS
type: SiteQuality
SIO_000300: 2.944e0

MQRankSum
type: SiteQuality
SIO_000300: -1.488e0

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.728959e6

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.394e0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.877581674802854e-4
allele num: 15978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65096
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.252e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 3.111e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.728881e6

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.034e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

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

South Asian
type: Population
allele count: 10
allele frequency: 6.322711178553364e-4
allele num: 15816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65088
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.567e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.253e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 1.725436e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537326282130119e-5
allele num: 65048
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15676
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

FS
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 1.72214e6

QD
type: SiteQuality
SIO_000300: 1.359e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536806516059628e-5
allele num: 65070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

DP
type: SiteQuality
SIO_000300: 1.720958e6

VQSLOD
type: SiteQuality
SIO_000300: -2.423e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 6.065e0

MQRankSum
type: SiteQuality
SIO_000300: -1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 6.28e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169864295741694e-4
allele num: 8548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65030
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 9.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 1.718684e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.688759034291866e-5
allele num: 65030
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 1.715617e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.164e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.803646754660499e-5
allele num: 14698
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.356e1

FS
type: SiteQuality
SIO_000300: 2.975e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.185e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

DP
type: SiteQuality
SIO_000300: 1.699495e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541592156379108e-5
allele num: 64868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.189e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 3.155e0

MQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.69687e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.169864295741694e-4
allele num: 8548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64868
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 3.155e0

DP
type: SiteQuality
SIO_000300: 1.69687e6

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
SIO_000300: 1.189e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.69525e6

FS
type: SiteQuality
SIO_000300: 7.341e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.958e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.128e0

QD
type: SiteQuality
SIO_000300: 9.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

African
type: Population
allele count: 1
allele frequency: 1.045369015262388e-4
allele num: 9566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543495709081929e-5
allele num: 64788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.197e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 6.162e0

VQSLOD
type: SiteQuality
SIO_000300: -6.353e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 1.692492e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

South Asian
type: Population
allele count: 2
allele frequency: 1.396843134515994e-4
allele num: 14318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.015902712815715e-4
allele num: 8552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

FS
type: SiteQuality
SIO_000300: 1.126e0

QD
type: SiteQuality
SIO_000300: 1.438e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.69249e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.098489087856743e-4
allele num: 14296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64792
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.691572e6

QD
type: SiteQuality
SIO_000300: 1.266e1

FS
type: SiteQuality
SIO_000300: 4.411e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.687212e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14088
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.059e0

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 1.686967e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.484e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.061e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.67783e6

FS
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.311e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.865787673362771e-4
allele num: 64316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12942
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 4.58e-1

QD
type: SiteQuality
SIO_000300: 9.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.665423e6

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559770401796856e-5
allele num: 64112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.658204e6

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

QD
type: SiteQuality
SIO_000300: 1.135e1

VQSLOD
type: SiteQuality
SIO_000300: -1.455e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.174812030075188e-4
allele num: 8512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12222
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.535e0

DP
type: SiteQuality
SIO_000300: 1.656297e6

FS
type: SiteQuality
SIO_000300: 9.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.77e1

QD
type: SiteQuality
SIO_000300: 6.84e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11812
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.044495508669313e-4
allele num: 9574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 2.785e0

DP
type: SiteQuality
SIO_000300: 1.649572e6

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.058e0

QD
type: SiteQuality
SIO_000300: 1.111e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.162055335968379e-5
allele num: 63250
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.389e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.618717e6

QD
type: SiteQuality
SIO_000300: 1.055e1

FS
type: SiteQuality
SIO_000300: 1.387e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.389e0

MQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

DP
type: SiteQuality
SIO_000300: 1.618717e6

QD
type: SiteQuality
SIO_000300: 1.055e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.387e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.978239366963402e-4
allele num: 10110
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.884e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.557e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.607716e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591241805104704e-5
allele num: 62844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.425e0

QD
type: SiteQuality
SIO_000300: 1.485e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

FS
type: SiteQuality
SIO_000300: 5.238e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.892e-1

DP
type: SiteQuality
SIO_000300: 1.572436e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.809020436927414e-4
allele num: 11352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62726
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.438e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 6.242e0

QD
type: SiteQuality
SIO_000300: 7.43e0

DP
type: SiteQuality
SIO_000300: 1.557703e6

MQ
type: SiteQuality
SIO_000300: 5.306e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.72e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62722
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.07828337287039e-4
allele num: 9274
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.784e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.988e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 8.314e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 8.99e0

DP
type: SiteQuality
SIO_000300: 1.544819e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.060670343657191e-4
allele num: 9428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.74e0

MQ
type: SiteQuality
SIO_000300: 5.684e1

VQSLOD
type: SiteQuality
SIO_000300: -4.858e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.096e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

DP
type: SiteQuality
SIO_000300: 1.544315e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.91e-1

FS
type: SiteQuality
SIO_000300: 2.57e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62546
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.347708894878706e-3
allele num: 742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.280839895013123e-4
allele num: 9144
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.245e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

DP
type: SiteQuality
SIO_000300: 1.519431e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.961e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.06315118009781e-4
allele num: 9406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

DP
type: SiteQuality
SIO_000300: 1.518224e6

FS
type: SiteQuality
SIO_000300: 1.1807e1

QD
type: SiteQuality
SIO_000300: 1.426e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.153e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.426e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.153e0

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

FS
type: SiteQuality
SIO_000300: 1.1807e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

DP
type: SiteQuality
SIO_000300: 1.518224e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5948
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.09217999126256e-4
allele num: 9156
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.695417789757413e-3
allele num: 742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

Latino
type: Population
allele count: 47
allele frequency: 4.156349487088787e-3
allele num: 11308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.35538299300163e-4
allele num: 62586
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

DP
type: SiteQuality
SIO_000300: 1.520134e6

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.362397820163488e-3
allele num: 734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5838
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.307559767391773e-4
allele num: 9286
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

FS
type: SiteQuality
SIO_000300: 3.526e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.41e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.077e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 1.462098e6

Latino
type: Population
allele count: 1
allele frequency: 8.869966294128082e-5
allele num: 11274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61025409809668e-5
allele num: 62102
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

DP
type: SiteQuality
SIO_000300: 1.459775e6

QD
type: SiteQuality
SIO_000300: 1.363e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62140
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.375337533753375e-4
allele num: 8888
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

QD
type: SiteQuality
SIO_000300: 1.001e1

FS
type: SiteQuality
SIO_000300: 1.159e0

DP
type: SiteQuality
SIO_000300: 1.455395e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

South Asian
type: Population
allele count: 1
allele frequency: 1.125112511251125e-4
allele num: 8888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

FS
type: SiteQuality
SIO_000300: 1.159e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.001e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 1.455395e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609580221478239e-5
allele num: 62128
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.695e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.450427e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.31891321551042e-4
allele num: 7582
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 2.167e0

DP
type: SiteQuality
SIO_000300: 3.02121e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.912e1

VQSLOD
type: SiteQuality
SIO_000300: -2.571e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 4.712e1

GenotypeQuality
all individuals: 433
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.306165099268548e-4
allele num: 7656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1028
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.503e0

MQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

DP
type: SiteQuality
SIO_000300: 3.03584e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.716e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.84e0

MQ
type: SiteQuality
SIO_000300: 4.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

GenotypeQuality
all individuals: 632
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.626740215392698e-4
allele num: 7614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1678
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

VQSLOD
type: SiteQuality
SIO_000300: -1.483e0

QD
type: SiteQuality
SIO_000300: 1.228e1

DP
type: SiteQuality
SIO_000300: 3.04283e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQ
type: SiteQuality
SIO_000300: 4.968e1

GenotypeQuality
all individuals: 426
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.311303435615001e-4
allele num: 7626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.05127e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 4.196e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 2.29e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
SIO_000300: 1.842e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.192e0

GenotypeQuality
all individuals: 2012
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.06963e5

QD
type: SiteQuality
SIO_000300: 1.851e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.912e1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 2.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.196e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.935e0

DP
type: SiteQuality
SIO_000300: 3.06214e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

GenotypeQuality
all individuals: 741
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.196e1

VQSLOD
type: SiteQuality
SIO_000300: -1.898e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 3.064e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.135e1

GenotypeQuality
all individuals: 1154
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.333333333333334e-3
allele num: 300
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.411290322580645e-2
allele num: 992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.662234042553191e-4
allele num: 6016
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.042e-1

MQ
type: SiteQuality
SIO_000300: 5.089e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.07333e5

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 5.188067444876783e-3
allele num: 1542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.128e2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.774e0

QD
type: SiteQuality
SIO_000300: 5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.55e-2

FS
type: SiteQuality
SIO_000300: 1.57417e2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.063e0

MQRankSum
type: SiteQuality
SIO_000300: -9.23e-1

DP
type: SiteQuality
SIO_000300: 3.07176e5

MQ
type: SiteQuality
SIO_000300: 5.296e1

GenotypeQuality
all individuals: 668
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.69548999660902e-4
allele num: 5898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.872e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.414e0

MQ
type: SiteQuality
SIO_000300: 5.491e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.36e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

DP
type: SiteQuality
SIO_000300: 3.05627e5

QD
type: SiteQuality
SIO_000300: 8.76e0

GenotypeQuality
all individuals: 382
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.304801670146138e-4
allele num: 7664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.78e-2

QD
type: SiteQuality
SIO_000300: 1.479e1

VQSLOD
type: SiteQuality
SIO_000300: -1.772e0

DP
type: SiteQuality
SIO_000300: 2.99061e5

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

FS
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQ
type: SiteQuality
SIO_000300: 5.382e1

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.77430801987225e-4
allele num: 5636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 2.99731e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.177e0

FS
type: SiteQuality
SIO_000300: 7.151e0

QD
type: SiteQuality
SIO_000300: 1.146e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.23e-2

MQ
type: SiteQuality
SIO_000300: 5.566e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeQuality
all individuals: 410
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506841058405159e-5
allele num: 66364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

FS
type: SiteQuality
SIO_000300: 2.172e0

DP
type: SiteQuality
SIO_000300: 2.281877e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.449e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 15640
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.026061974143238e-4
allele num: 9746
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.967e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 2.281011e6

MQ
type: SiteQuality
SIO_000300: 5.893e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.138e0

FS
type: SiteQuality
SIO_000300: 4.486e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.31e-1

QD
type: SiteQuality
SIO_000300: 6.13e0

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.128e1

DP
type: SiteQuality
SIO_000300: 2.287067e6

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.431e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

GenotypeQuality
all individuals: 23244
bin: 9.75e1
variant carriers: 6

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.963788300835655e-4
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

DP
type: SiteQuality
SIO_000300: 2.293172e6

QD
type: SiteQuality
SIO_000300: 1.353e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 27

European (Finnish)
type: Population
allele count: 2383
allele frequency: 3.617182756527019e-1
allele num: 6588
num of homozygotes: 439

European (Non-Finnish)
type: Population
allele count: 24116
allele frequency: 3.632693640225348e-1
allele num: 66386
num of homozygotes: 4441

Other
type: Population
allele count: 362
allele frequency: 4.031180400890869e-1
allele num: 898
num of homozygotes: 69

African
type: Population
allele count: 8478
allele frequency: 8.652786282914881e-1
allele num: 9798
num of homozygotes: 3686

South Asian
type: Population
allele count: 9862
allele frequency: 5.981319747695294e-1
allele num: 16488
num of homozygotes: 3018

Latino
type: Population
allele count: 2785
allele frequency: 2.417534722222222e-1
allele num: 11520
num of homozygotes: 373

East Asian
type: Population
allele count: 6480
allele frequency: 7.54014428671166e-1
allele num: 8594
num of homozygotes: 2430

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.707423e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

QD
type: SiteQuality
SIO_000300: 2.194e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.323e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

GenotypeQuality
all individuals: 2438
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

DP
type: SiteQuality
SIO_000300: 1.701745e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.956e0

QD
type: SiteQuality
SIO_000300: 1.115e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0