20-2819480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819480
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819480
    reference: chr 20
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.93+10A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.443+10A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.290+10A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.443+10A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.290+10A>G
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6363
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

20-2819482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819482
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819482
    reference: chr 20
allele count: 34
allele frequency: 2.802274787768895e-4
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.93+8C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.443+8C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.290+8C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.443+8C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.290+8C>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6362
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: c.443+8C>T
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-2819513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819513
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819513
    reference: chr 20
allele count: 535
allele frequency: 4.410625072136391e-3
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.420C>T
  hgvsp: ENST00000439542.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.70C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.267C>T
  hgvsp: ENST00000448755.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.267C>T
  hgvsp: ENST00000356872.3:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.420C>T
  hgvsp: ENST00000360652.2:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11855
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 15399
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.75e1
  variant carriers: 388
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6471
  bin: 9.75e1
  variant carriers: 521
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5693
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn140Asn
num of homozygotes: 12
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

20-2819518-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819518
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819518
    reference: chr 20
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.262A>T
  hgvsp: ENSP00000349334.3:p.Ile88Phe
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.262A>T
  hgvsp: ENSP00000388935.1:p.Ile88Phe
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.415A>T
  hgvsp: ENSP00000401711.1:p.Ile139Phe
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.415A>T
  hgvsp: ENSP00000353868.2:p.Ile139Phe
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.65A>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5067
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile139Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

20-2819518-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819518
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819518
    reference: chr 20
allele count: 5
allele frequency: 4.122351389232418e-5
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.415A>G
  hgvsp: ENSP00000353868.2:p.Ile139Val
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.262A>G
  hgvsp: ENSP00000388935.1:p.Ile88Val
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.415A>G
  hgvsp: ENSP00000401711.1:p.Ile139Val
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.262A>G
  hgvsp: ENSP00000349334.3:p.Ile88Val
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.65A>G
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12067
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile139Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

20-2819518-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819518
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819518
    reference: chr 20
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.415A>C
  hgvsp: ENSP00000401711.1:p.Ile139Leu
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.65A>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.415A>C
  hgvsp: ENSP00000353868.2:p.Ile139Leu
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.262A>C
  hgvsp: ENSP00000388935.1:p.Ile88Leu
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.262A>C
  hgvsp: ENSP00000349334.3:p.Ile88Leu
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6016
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile139Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

20-2819531-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819531
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819531
    reference: chr 20
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.402G>C
  hgvsp: ENST00000439542.1:c.402G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.249G>C
  hgvsp: ENST00000356872.3:c.249G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.249G>C
  hgvsp: ENST00000448755.1:c.249G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.402G>C
  hgvsp: ENST00000360652.2:c.402G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.52G>C
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6013
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5062
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro134Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-2819531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819531
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819531
    reference: chr 20
allele count: 40
allele frequency: 3.298533801725133e-4
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.249G>A
  hgvsp: ENST00000448755.1:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.402G>A
  hgvsp: ENST00000439542.1:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.249G>A
  hgvsp: ENST00000356872.3:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.402G>A
  hgvsp: ENST00000360652.2:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.52G>A
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22907
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro134Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

20-2819547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819547
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819547
    reference: chr 20
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.233C>T
  hgvsp: ENSP00000388935.1:p.Thr78Ile
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.386C>T
  hgvsp: ENSP00000401711.1:p.Thr129Ile
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.233C>T
  hgvsp: ENSP00000349334.3:p.Thr78Ile
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.36C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.386C>T
  hgvsp: ENSP00000353868.2:p.Thr129Ile
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr129Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-2819554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819554
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819554
    reference: chr 20
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.226G>A
  hgvsp: ENSP00000388935.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.379G>A
  hgvsp: ENSP00000401711.1:p.Glu127Lys
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.29G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.379G>A
  hgvsp: ENSP00000353868.2:p.Glu127Lys
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.226G>A
  hgvsp: ENSP00000349334.3:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5978
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu127Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

20-2819565-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819565
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819565
    reference: chr 20
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.368A>G
  hgvsp: ENSP00000401711.1:p.Asp123Gly
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.215A>G
  hgvsp: ENSP00000349334.3:p.Asp72Gly
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.215A>G
  hgvsp: ENSP00000388935.1:p.Asp72Gly
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.18A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.368A>G
  hgvsp: ENSP00000353868.2:p.Asp123Gly
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5977
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp123Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-2819572-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819572
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819572
    reference: chr 20
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.361C>G
  hgvsp: ENSP00000353868.2:p.Leu121Val
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.208C>G
  hgvsp: ENSP00000388935.1:p.Leu70Val
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.208C>G
  hgvsp: ENSP00000349334.3:p.Leu70Val
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.361C>G
  hgvsp: ENSP00000401711.1:p.Leu121Val
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.11C>G
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5976
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu121Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

20-2819579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819579
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819579
    reference: chr 20
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-4C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.354C>T
  hgvsp: ENST00000360652.2:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-4C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132635
  ensembl transcript: ENST00000487501
  gene symbol: PCED1A
  hgvsc: ENST00000487501.2:n.4C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.354C>T
  hgvsp: ENST00000439542.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5975
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 8.25e1
  variant carriers: 0
hgvs: c.205-4C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

20-2819587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819587
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819587
    reference: chr 20
allele count: 3
allele frequency: 2.476269087907552e-5
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.346G>A
  hgvsp: ENSP00000401711.1:p.Val116Ile
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-12G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-12G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.346G>A
  hgvsp: ENSP00000353868.2:p.Val116Ile
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val116Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

20-2819593-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819593
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819593
    reference: chr 20
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-18A>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.340A>C
  hgvsp: ENSP00000353868.2:p.Thr114Pro
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-18A>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.340A>C
  hgvsp: ENSP00000401711.1:p.Thr114Pro
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12032
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5975
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5051
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr114Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

20-2819597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819597
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819597
    reference: chr 20
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-22C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.336C>T
  hgvsp: ENST00000360652.2:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-22C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.336C>T
  hgvsp: ENST00000439542.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe112Phe
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

20-2819607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819607
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819607
    reference: chr 20
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-32G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-32G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.326G>A
  hgvsp: ENSP00000353868.2:p.Arg109His
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.326G>A
  hgvsp: ENSP00000401711.1:p.Arg109His
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg109His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

20-2819608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819608
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819608
    reference: chr 20
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-33C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.325C>T
  hgvsp: ENSP00000353868.2:p.Arg109Cys
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-33C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.325C>T
  hgvsp: ENSP00000401711.1:p.Arg109Cys
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12025
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg109Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-2819629-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819629
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819629
    reference: chr 20
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.304G>T
  hgvsp: ENSP00000401711.1:p.Gly102Cys
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-54G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.304G>T
  hgvsp: ENSP00000353868.2:p.Gly102Cys
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-54G>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly102Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

20-2819631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819631
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819631
    reference: chr 20
allele count: 2
allele frequency: 1.65264671371201e-5
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.302C>T
  hgvsp: ENSP00000353868.2:p.Ser101Leu
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-56C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.302C>T
  hgvsp: ENSP00000401711.1:p.Ser101Leu
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-56C>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5970
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser101Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

20-2819643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819643
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819643
    reference: chr 20
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.290G>A
  hgvsp: ENSP00000353868.2:p.Arg97His
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-68G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.290G>A
  hgvsp: ENSP00000401711.1:p.Arg97His
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-68G>A
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg97His
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

20-2819644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819644
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819644
    reference: chr 20
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-69C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.289C>T
  hgvsp: ENSP00000353868.2:p.Arg97Cys
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.289C>T
  hgvsp: ENSP00000401711.1:p.Arg97Cys
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-69C>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15394
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5960
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg97Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum

20-2819651-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819651
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819651
    reference: chr 20
allele count: 2
allele frequency: 1.654341820106871e-5
allele num: 120894
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.282T>C
  hgvsp: ENST00000360652.2:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-76T>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.282T>C
  hgvsp: ENST00000439542.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-76T>C
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5007
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg94Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

20-2819666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819666
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819666
    reference: chr 20
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.267C>T
  hgvsp: ENST00000360652.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-91C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.267C>T
  hgvsp: ENST00000439542.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-91C>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn89Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD

20-2819668-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819668
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819668
    reference: chr 20
allele count: 2
allele frequency: 1.655985559805918e-5
allele num: 120774
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.265A>G
  hgvsp: ENSP00000353868.2:p.Asn89Asp
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.265A>G
  hgvsp: ENSP00000401711.1:p.Asn89Asp
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-93A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-93A>G
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5947
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4984
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn89Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-2819677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819677
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819677
    reference: chr 20
allele count: 7
allele frequency: 5.801617822569951e-5
allele num: 120656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-102G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-102G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.256G>A
  hgvsp: ENSP00000401711.1:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.256G>A
  hgvsp: ENSP00000353868.2:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11825
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5941
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu86Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

20-2819678-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819678
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819678
    reference: chr 20
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-103C>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.255C>A
  hgvsp: ENST00000360652.2:c.255C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.255C>A
  hgvsp: ENST00000439542.1:c.255C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-103C>A
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5934
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4927
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly85Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

20-2819679-CCCAGCTGGCCCCCAGCCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819679
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819661
    reference: chr 20
allele count: 3
allele frequency: 2.48714972641353e-5
allele num: 120620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsp: ENSP00000401711.1:p.Val79_Leu84del
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsp: ENSP00000353868.2:p.Val79_Leu84del
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11796
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5934
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11727
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val79_Leu84del
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: CCCAGCTGGCCCCCAGCCA
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

20-2819696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819696
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819696
    reference: chr 20
allele count: 23
allele frequency: 1.908935477980844e-4
allele num: 120486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.237G>A
  hgvsp: ENST00000439542.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-121G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.237G>A
  hgvsp: ENST00000360652.2:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-121G>A
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14931
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11729
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5915
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 5573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4879
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val79Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/20-2819698-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819698
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819698
    reference: chr 20
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.205-123G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.235G>T
  hgvsp: ENSP00000401711.1:p.Val79Leu
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.205-123G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.235G>T
  hgvsp: ENSP00000353868.2:p.Val79Leu
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val79Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

20-2819722-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819722
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819722
    reference: chr 20
allele count: 1
allele frequency: 8.364281173675934e-6
allele num: 119556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+116C>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.211C>G
  hgvsp: ENSP00000401711.1:p.Leu71Val
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+116C>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.211C>G
  hgvsp: ENSP00000353868.2:p.Leu71Val
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu71Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

20-2819723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819723
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819723
    reference: chr 20
allele count: 1
allele frequency: 8.383494575879009e-6
allele num: 119282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+115G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+115G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.210G>A
  hgvsp: ENST00000439542.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.210G>A
  hgvsp: ENST00000360652.2:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5852
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu70Glu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

20-2819724-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819724
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819725
    reference: chr 20
allele count: 2
allele frequency: 1.688020121199845e-5
allele num: 118482
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+113dupG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.208dupG
  hgvsp: ENSP00000353868.2:p.Glu70GlyfsTer5
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.208dupG
  hgvsp: ENSP00000401711.1:p.Glu70GlyfsTer5
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+113dupG
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5785
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu70GlyfsTer5
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

20-2819729-CTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819729
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819727
    reference: chr 20
allele count: 24
allele frequency: 2.063025426788385e-4
allele num: 116334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+107_204+108delTA
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-3_205-2delTA
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+107_204+108delTA
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-3_205-2delTA
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10291
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7908
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4875
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5556
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 11668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7915
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 3.75e1
  variant carriers: 2
hgvs: c.205-3_205-2delTA
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: CTA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

20-2819729-CTACCCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819729
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819723
    reference: chr 20
allele count: 5
allele frequency: 4.297969639142469e-5
allele num: 116334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+103_204+108delTGGGTA
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-7_205-2delTGGGTA
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-7_205-2delTGGGTA
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+103_204+108delTGGGTA
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10291
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7908
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5556
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
hgvs: c.205-7_205-2delTGGGTA
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: CTACCCA
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-2819730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819730
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819730
    reference: chr 20
allele count: 150
allele frequency: 1.748210997412648e-3
allele num: 85802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+108A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+108A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-2A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-2A>G
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8963
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10101
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 4990
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 11334
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7240
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 1.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 9.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 1.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 7
hgvs: c.205-2A>G
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-2819731-A-AAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819731
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819733
    reference: chr 20
allele count: 1
allele frequency: 9.945894334818586e-6
allele num: 100544
alternate allele: AAC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-4_205-3insGT
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+106_204+107insGT
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+106_204+107insGT
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-4_205-3insGT
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 3.75e1
  variant carriers: 0
hgvs: c.205-4_205-3insGT
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-2819731-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819731
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819732
    reference: chr 20
allele count: 2
allele frequency: 1.989178866963717e-5
allele num: 100544
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+106dupG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-4dupG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+106dupG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-4dupG
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8478
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
hgvs: c.205-4dupG
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/20-2819731-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819731
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819731
    reference: chr 20
allele count: 65
allele frequency: 6.464831317632082e-4
allele num: 100544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-3T>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-3T>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+107T>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+107T>G
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8478
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 8370
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5670
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.75e1
  variant carriers: 1
hgvs: c.205-3T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

20-2819731-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819731
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819731
    reference: chr 20
allele count: 6
allele frequency: 5.967536600891152e-5
allele num: 100544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+107T>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-3T>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-3T>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+107T>A
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8478
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5670
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 3.75e1
  variant carriers: 0
hgvs: c.205-3T>A
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/20-2819735-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819735
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819735
    reference: chr 20
allele count: 2002
allele frequency: 4.526339588514583e-2
allele num: 44230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+103T>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-7T>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-7T>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+103T>G
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 4.25e1
  variant carriers: 373
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 4.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 2.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 3.25e1
  variant carriers: 438
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 3.75e1
  variant carriers: 458
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 1.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.75e1
  variant carriers: 286
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 2.25e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 9.75e1
  variant carriers: 1015
genotype quality: GenotypeQuality
  all individuals: 29995
  bin: 2.5e0
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 1.75e1
  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 7.5e0
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 3.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 6.25e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 5.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 2.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 5.25e1
  variant carriers: 55
hgvs: c.205-7T>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/20-2819735-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819735
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819736
    reference: chr 20
allele count: 78
allele frequency: 1.763508930590097e-3
allele num: 44230
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-8dupG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+102dupG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+102dupG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-8dupG
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29995
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/20-2819735-A-ACCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819735
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819739
    reference: chr 20
allele count: 12
allele frequency: 2.713090662446303e-4
allele num: 44230
alternate allele: ACCCC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-11_205-8dupGGGG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+99_204+102dupGGGG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+99_204+102dupGGGG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-11_205-8dupGGGG
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29995
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-2819735-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819735
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819734
    reference: chr 20
allele count: 90
allele frequency: 2.034817996834728e-3
allele num: 44230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-8delG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+102delG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+102delG
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-8delG
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 2.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 1.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29995
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 6.75e1
  variant carriers: 2
hgvs: c.205-8delG
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: AC
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

20-2819736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819736
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819736
    reference: chr 20
allele count: 1
allele frequency: 9.161704076958313e-6
allele num: 109150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+102G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+102G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-8G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-8G>A
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
hgvs: c.205-8G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-2819737-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819737
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819737
    reference: chr 20
allele count: 1
allele frequency: 8.918378995433789e-6
allele num: 112128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-9G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-9G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+101G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+101G>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

20-2819737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819737
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819737
    reference: chr 20
allele count: 1
allele frequency: 8.918378995433789e-6
allele num: 112128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+101G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-9G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-9G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+101G>A
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3471
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-2819738-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819738
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819738
    reference: chr 20
allele count: 1
allele frequency: 8.606000103272e-6
allele num: 116198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-10G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-10G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+100G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+100G>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-2819739-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819739
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819739
    reference: chr 20
allele count: 1
allele frequency: 8.596382642184169e-6
allele num: 116328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-11G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+99G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-11G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+99G>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10257
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

20-2819740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819740
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819740
    reference: chr 20
allele count: 1
allele frequency: 8.596087061169755e-6
allele num: 116332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-12G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+98G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-12G>A
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+98G>A
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/20-2819741-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819741
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819741
    reference: chr 20
allele count: 1
allele frequency: 8.593575442998814e-6
allele num: 116366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-13G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+97G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+97G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-13G>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/20-2819742-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819742
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819742
    reference: chr 20
allele count: 3
allele frequency: 2.575593674341936e-5
allele num: 116478
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-14G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+96G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-14G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+96G>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10690
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5513
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/20-2819744-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819744
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819744
    reference: chr 20
allele count: 1435
allele frequency: 2.397981350890679e-2
allele num: 59842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+94T>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-16T>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-16T>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+94T>G
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 3.75e1
  variant carriers: 330
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 3.25e1
  variant carriers: 315
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 4.25e1
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 11886
  bin: 2.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 2.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 9.75e1
  variant carriers: 842
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 1.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 2.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 23430
  bin: 2.5e0
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.5e0
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 3.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 3.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 6.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 7.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 4.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 4793
  bin: 6.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 2.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 1.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 38
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-2819750-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819750
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819750
    reference: chr 20
allele count: 1
allele frequency: 8.558273282782466e-6
allele num: 116846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-22G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+88G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-22G>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+88G>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13457
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15865
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

20-2819758-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819758
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819758
    reference: chr 20
allele count: 19
allele frequency: 1.616883669474938e-4
allele num: 117510
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-30T>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+80T>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-30T>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+80T>C
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13602
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10736
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14026
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4931
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/20-2819762-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819762
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819762
    reference: chr 20
allele count: 1
allele frequency: 8.489396743467409e-6
allele num: 117794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+76T>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+76T>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-34T>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-34T>G
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11103
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

20-2819763-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819763
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819763
    reference: chr 20
allele count: 1
allele frequency: 8.474001762592366e-6
allele num: 118008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+75A>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+75A>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-35A>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-35A>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-2819763-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819763
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819763
    reference: chr 20
allele count: 1
allele frequency: 8.474001762592366e-6
allele num: 118008
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.205-35A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.205-35A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+75A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+75A>G
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

20-2819797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819797
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819797
    reference: chr 20
allele count: 3
allele frequency: 2.47999470934462e-5
allele num: 120968
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.204+41C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+41C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.204+41C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+41C>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7310
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23717
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-2819804-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819804
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819804
    reference: chr 20
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+34G>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.204+34G>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.204+34G>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+34G>C
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

20-2819810-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819810
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819810
    reference: chr 20
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.204+28T>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+28T>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.204+28T>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+28T>C
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7286
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS

20-2819812-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819812
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819812
    reference: chr 20
allele count: 2
allele frequency: 1.652346331791144e-5
allele num: 121040
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.204+26A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+26A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.204+26A>G
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+26A>G
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7287
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

20-2819812-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819812
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819812
    reference: chr 20
allele count: 4
allele frequency: 3.304692663582287e-5
allele num: 121040
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.204+26A>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+26A>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+26A>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.204+26A>C
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

20-2819813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819813
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819813
    reference: chr 20
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.204+25C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+25C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.204+25C>T
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+25C>T
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

20-2819828-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819828
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819828
    reference: chr 20
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.204+10G>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.204+10G>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+10G>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+10G>C
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16838
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7278
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

20-2819837-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819837
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819837
    reference: chr 20
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.204+1G>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.204+1G>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.204+1G>C
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.204+1G>C
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 8.25e1
  variant carriers: 0
hgvs: c.204+1G>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

20-2819850-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819850
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819850
    reference: chr 20
allele count: 2
allele frequency: 1.652319029758266e-5
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.192G>A
  hgvsp: ENST00000360652.2:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.192G>A
  hgvsp: ENST00000448755.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.192G>A
  hgvsp: ENST00000356872.3:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.192G>A
  hgvsp: ENST00000439542.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln64Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum

20-2819854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819854
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819854
    reference: chr 20
allele count: 22
allele frequency: 1.817941429232498e-4
allele num: 121016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.188C>T
  hgvsp: ENSP00000401711.1:p.Ala63Val
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.188C>T
  hgvsp: ENSP00000349334.3:p.Ala63Val
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.188C>T
  hgvsp: ENSP00000353868.2:p.Ala63Val
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.188C>T
  hgvsp: ENSP00000388935.1:p.Ala63Val
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20322
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3755
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7284
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala63Val
num of homozygotes: 1
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

20-2819862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819862
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819862
    reference: chr 20
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.180C>T
  hgvsp: ENST00000360652.2:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.180C>T
  hgvsp: ENST00000439542.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.180C>T
  hgvsp: ENST00000448755.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.180C>T
  hgvsp: ENST00000356872.3:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7261
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu60Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

20-2819874-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819874
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819874
    reference: chr 20
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.168A>G
  hgvsp: ENST00000360652.2:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.168A>G
  hgvsp: ENST00000356872.3:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.168A>G
  hgvsp: ENST00000439542.1:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.168A>G
  hgvsp: ENST00000448755.1:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys56Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-2819883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819883
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819883
    reference: chr 20
allele count: 3
allele frequency: 2.482991508169042e-5
allele num: 120822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.159G>A
  hgvsp: ENST00000439542.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.159G>A
  hgvsp: ENST00000356872.3:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.159G>A
  hgvsp: ENST00000360652.2:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.159G>A
  hgvsp: ENST00000448755.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16816
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu53Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

20-2819883-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819883
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819883
    reference: chr 20
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.159G>C
  hgvsp: ENSP00000349334.3:p.Leu53Phe
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.159G>C
  hgvsp: ENSP00000353868.2:p.Leu53Phe
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.159G>C
  hgvsp: ENSP00000401711.1:p.Leu53Phe
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.159G>C
  hgvsp: ENSP00000388935.1:p.Leu53Phe
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7261
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu53Phe
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

20-2819886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819886
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819886
    reference: chr 20
allele count: 4
allele frequency: 3.31087456751701e-5
allele num: 120814
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.156C>T
  hgvsp: ENST00000360652.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.156C>T
  hgvsp: ENST00000448755.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.156C>T
  hgvsp: ENST00000439542.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.156C>T
  hgvsp: ENST00000356872.3:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7257
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu52Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

20-2819886-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819886
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819886
    reference: chr 20
allele count: 1
allele frequency: 8.277186418792524e-6
allele num: 120814
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.156C>G
  hgvsp: ENST00000356872.3:c.156C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.156C>G
  hgvsp: ENST00000439542.1:c.156C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.156C>G
  hgvsp: ENST00000448755.1:c.156C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.156C>G
  hgvsp: ENST00000360652.2:c.156C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5058
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu52Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

20-2819895-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2819895
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2819895
    reference: chr 20
allele count: 9
allele frequency: 7.454403896168437e-5
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000401711
  ensembl transcript: ENST00000439542
  gene symbol: PCED1A
  hgvsc: ENST00000439542.1:c.147C>T
  hgvsp: ENST00000439542.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000349334
  ensembl transcript: ENST00000356872
  gene symbol: PCED1A
  hgvsc: ENST00000356872.3:c.147C>T
  hgvsp: ENST00000356872.3:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000388935
  ensembl transcript: ENST00000448755
  gene symbol: PCED1A
  hgvsc: ENST00000448755.1:c.147C>T
  hgvsp: ENST00000448755.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132635
  ensembl protein: ENSP00000353868
  ensembl transcript: ENST00000360652
  gene symbol: PCED1A
  hgvsc: ENST00000360652.2:c.147C>T
  hgvsp: ENST00000360652.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Asp49Asp
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.262353e6

QD
type: SiteQuality
SIO_000300: 1.659e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

FS
type: SiteQuality
SIO_000300: 3.862e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 4156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5062
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12012
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.850138760407031e-3
allele num: 8648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 18
allele frequency: 1.090116279069767e-3
allele num: 16512
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

QD
type: SiteQuality
SIO_000300: 1.246e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.402e0

DP
type: SiteQuality
SIO_000300: 2.265406e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 1.757e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

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

GenotypeQuality
all individuals: 4140
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 22765
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5039
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 16
allele frequency: 1.38217000691085e-3
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 507
allele frequency: 4.878752886836028e-2
allele num: 10392
num of homozygotes: 12

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200192030724916e-4
allele num: 66656
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.448e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.765e0

DP
type: SiteQuality
SIO_000300: 2.300815e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
all individuals: 22991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6016
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1850
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12067
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 2.252486e6

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4158
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6016
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 5729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.501650363079878e-5
allele num: 66652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.261e1

DP
type: SiteQuality
SIO_000300: 2.252486e6

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4158
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.261e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 2.252486e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 12056
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

QD
type: SiteQuality
SIO_000300: 1.37e1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 5.35e-1

DP
type: SiteQuality
SIO_000300: 2.254415e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6013
bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5062
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 39
allele frequency: 3.369039391845197e-3
allele num: 11576
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.37e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 5.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

DP
type: SiteQuality
SIO_000300: 2.254415e6

GenotypeQuality
all individuals: 5720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22961
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5979
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1848
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4156
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.839e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

FS
type: SiteQuality
SIO_000300: 1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.249733e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

GenotypeQuality
all individuals: 2471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5065
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 1.183e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.402e0

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.741e0

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 2.249665e6

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
all individuals: 1845
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.753e-1

FS
type: SiteQuality
SIO_000300: 4.46e0

DP
type: SiteQuality
SIO_000300: 2.249197e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

MQ
type: SiteQuality
SIO_000300: 5.459e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1845
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12046
bin: 6.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.874e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.267e1

MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.063e0

DP
type: SiteQuality
SIO_000300: 2.249025e6

VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22982
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5716
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 6.183e0

QD
type: SiteQuality
SIO_000300: 1.271e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.561e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 2.248841e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 5976
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2469
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.12e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 5.974e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.672e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.248891e6

GenotypeQuality
all individuals: 4150
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23023
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.912e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

FS
type: SiteQuality
SIO_000300: 4.548e0

QD
type: SiteQuality
SIO_000300: 1.511e1

DP
type: SiteQuality
SIO_000300: 2.248189e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.153e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

GenotypeQuality
all individuals: 5973
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5715
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.113e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.284e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 2.248205e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

GenotypeQuality
all individuals: 4148
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5971
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2469
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.181e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.61e-1

DP
type: SiteQuality
SIO_000300: 2.247898e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

GenotypeQuality
all individuals: 5971
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: -1.278e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

DP
type: SiteQuality
SIO_000300: 2.24762e6

FS
type: SiteQuality
SIO_000300: 1.667e0

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

GenotypeQuality
all individuals: 5969
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4147
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.282e0

QD
type: SiteQuality
SIO_000300: 1.081e1

FS
type: SiteQuality
SIO_000300: 6.43e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e-1

DP
type: SiteQuality
SIO_000300: 2.246006e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 22954
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.532e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 1.224e0

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.429999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

DP
type: SiteQuality
SIO_000300: 2.245741e6

GenotypeQuality
all individuals: 5015
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5961
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e-1

DP
type: SiteQuality
SIO_000300: 2.243783e6

QD
type: SiteQuality
SIO_000300: 1.456e1

GenotypeQuality
all individuals: 1838
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5011
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50652324565368e-5
allele num: 66378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.251e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

DP
type: SiteQuality
SIO_000300: 2.243618e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

GenotypeQuality
all individuals: 5959
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5700
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.931247585940518e-4
allele num: 10356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.388e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.182e0

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.24205e6

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

GenotypeQuality
all individuals: 5685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5947
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508705229172324e-5
allele num: 66282
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 2.237023e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.738e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.39e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 2.463e0

VQSLOD
type: SiteQuality
SIO_000300: -6.819e-1

GenotypeQuality
all individuals: 633
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018503426001389e-5
allele num: 66258
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.235368e6

QD
type: SiteQuality
SIO_000300: 1.284e1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.391e0

GenotypeQuality
all individuals: 4936
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.065361254645998e-5
allele num: 66186
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.74e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 6.31e-1

DP
type: SiteQuality
SIO_000300: 2.229347e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4121
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66152
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.227522e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 2.017e0

QD
type: SiteQuality
SIO_000300: 1.152e1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 186
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4120
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023065993530639e-5
allele num: 66158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.4132e1

QD
type: SiteQuality
SIO_000300: 2.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.827e0

MQ
type: SiteQuality
SIO_000300: 5.426e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.481e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 2.227062e6

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11635
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

South Asian
type: Population
allele count: 23
allele frequency: 1.393770452066416e-3
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.471e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 2.220587e6

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.243e1

GenotypeQuality
all individuals: 5565
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5892
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 9.721952167995334e-5
allele num: 10286
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.23e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 2.21849e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.41e-1

FS
type: SiteQuality
SIO_000300: 8.33e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

QD
type: SiteQuality
SIO_000300: 7.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 2390
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5858
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65528
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 4.84e0

QD
type: SiteQuality
SIO_000300: 1.253e1

MQ
type: SiteQuality
SIO_000300: 5.92e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.88e-1

DP
type: SiteQuality
SIO_000300: 2.129602e6

GenotypeQuality
all individuals: 14770
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65364
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.422e0

VQSLOD
type: SiteQuality
SIO_000300: -1.428e-1

DP
type: SiteQuality
SIO_000300: 2.114814e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -1.053e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 2.532e0

QD
type: SiteQuality
SIO_000300: 8.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

GenotypeQuality
all individuals: 3726
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 437
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540499738115044e-5
allele num: 64914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
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: 6490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.487e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 2.66212e2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.348e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 2.109545e6

QD
type: SiteQuality
SIO_000300: 3.1e0

GenotypeQuality
all individuals: 1360
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2273
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.305602716468591e-4
allele num: 9424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.411764705882353e-4
allele num: 63750
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.678571428571429e-4
allele num: 11200
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.375296912114014e-4
allele num: 8420
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.652605459057072e-4
allele num: 6448
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.233501911927963e-4
allele num: 16214
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 2.035582e6

FS
type: SiteQuality
SIO_000300: 2.43305e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

QD
type: SiteQuality
SIO_000300: 2.5e0

VQSLOD
type: SiteQuality
SIO_000300: -5.467e1

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
all individuals: 3727
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.705882352941177e-5
allele num: 63750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.550868486352357e-4
allele num: 6448
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.061120543293718e-4
allele num: 9424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

QD
type: SiteQuality
SIO_000300: 2.5e0

DP
type: SiteQuality
SIO_000300: 2.035582e6

MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 2.43305e2

VQSLOD
type: SiteQuality
SIO_000300: -5.467e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.84e-1

GenotypeQuality
all individuals: 959
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2559
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 7

East Asian
type: Population
allele count: 16
allele frequency: 2.781641168289291e-3
allele num: 5752
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.557632398753894e-3
allele num: 642
num of homozygotes: 0

Latino
type: Population
allele count: 20
allele frequency: 2.95159386068477e-3
allele num: 6776
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 3.535651149086624e-3
allele num: 6788
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 1.845610656395442e-3
allele num: 12462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 61
allele frequency: 1.244796343155661e-3
allele num: 49004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.142074006395614e-3
allele num: 4378
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.63e-1

FS
type: SiteQuality
SIO_000300: 2.55206e2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.077e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

DP
type: SiteQuality
SIO_000300: 1.986835e6

VQSLOD
type: SiteQuality
SIO_000300: -2.951e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.59e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.46e-1

GenotypeQuality
all individuals: 1393
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8370
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.792243171553516e-5
allele num: 55796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14442
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.916505e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.46e-1

FS
type: SiteQuality
SIO_000300: 2.5839e2

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.17e-1

QD
type: SiteQuality
SIO_000300: 4.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.270000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.764e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

GenotypeQuality
all individuals: 6110
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1033
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.584486343107033e-5
allele num: 55796
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.764e1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

FS
type: SiteQuality
SIO_000300: 2.5839e2

DP
type: SiteQuality
SIO_000300: 1.916505e6

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.270000000000001e-2

QD
type: SiteQuality
SIO_000300: 4.36e0

GenotypeQuality
all individuals: 3271
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6110
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4391
bin: 3.25e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 5.197505197505198e-4
allele num: 55796
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.154549231408392e-4
allele num: 14442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.765060240963856e-4
allele num: 5312
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.743896362730444e-3
allele num: 8028
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 9.968669894616917e-4
allele num: 7022
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.333333333333333e-3
allele num: 750
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 6.525995214270176e-4
allele num: 9194
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.46e-1

DP
type: SiteQuality
SIO_000300: 1.916505e6

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.764e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.270000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

FS
type: SiteQuality
SIO_000300: 2.5839e2

QD
type: SiteQuality
SIO_000300: 4.36e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

GenotypeQuality
all individuals: 572
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4069
bin: 2.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.384849743802797e-4
allele num: 14442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.792243171553516e-5
allele num: 55796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.882530120481928e-4
allele num: 5312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.848191398461977e-4
allele num: 7022
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.5839e2

DP
type: SiteQuality
SIO_000300: 1.916505e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.270000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.878e1

VQSLOD
type: SiteQuality
SIO_000300: -5.764e1

QD
type: SiteQuality
SIO_000300: 4.36e0

GenotypeQuality
all individuals: 570
bin: 7.25e1
variant carriers: 62

GenotypeQuality
all individuals: 361
bin: 8.25e1
variant carriers: 64

GenotypeQuality
all individuals: 947
bin: 6.75e1
variant carriers: 53

East Asian
type: Population
allele count: 53
allele frequency: 1.902368987796123e-2
allele num: 2786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1759
allele frequency: 7.286057493165438e-2
allele num: 24142
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 3.191489361702127e-2
allele num: 376
num of homozygotes: 0

South Asian
type: Population
allele count: 33
allele frequency: 4.678196767791324e-3
allele num: 7054
num of homozygotes: 0

Latino
type: Population
allele count: 46
allele frequency: 1.354534746760895e-2
allele num: 3396
num of homozygotes: 0

African
type: Population
allele count: 49
allele frequency: 1.291512915129151e-2
allele num: 3794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 50
allele frequency: 1.864280387770321e-2
allele num: 2682
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.88182e2

MQ
type: SiteQuality
SIO_000300: 5.85e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.426e-1

QD
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

DP
type: SiteQuality
SIO_000300: 1.757997e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -2.975e1

GenotypeQuality
all individuals: 570
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 361
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1747
bin: 9.75e1
variant carriers: 34

South Asian
type: Population
allele count: 5
allele frequency: 7.088176920895946e-4
allele num: 7054
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 2.108592514496574e-3
allele num: 3794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 2.236765802336177e-3
allele num: 24142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.659574468085106e-3
allele num: 376
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.076812634601579e-3
allele num: 2786
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 2.061248527679623e-3
allele num: 3396
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.426e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 2.17e0

FS
type: SiteQuality
SIO_000300: 1.88182e2

MQ
type: SiteQuality
SIO_000300: 5.85e1

DP
type: SiteQuality
SIO_000300: 1.757997e6

GenotypeQuality
all individuals: 2442
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 480
bin: 7.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 2.635740643120717e-4
allele num: 3794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.944640753828033e-4
allele num: 3396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.417635384179189e-4
allele num: 7054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 3.727943003893629e-4
allele num: 24142
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.88182e2

MQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.426e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.975e1

DP
type: SiteQuality
SIO_000300: 1.757997e6

MQ
type: SiteQuality
SIO_000300: 5.85e1

QD
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 361
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 1.988236268743269e-3
allele num: 24142
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 3.16288877174486e-3
allele num: 3794
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 1.794687724335965e-3
allele num: 2786
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 2.944640753828033e-3
allele num: 3396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 7.457121551081282e-4
allele num: 2682
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 1.842925999432946e-3
allele num: 7054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.426e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.757997e6

MQ
type: SiteQuality
SIO_000300: 5.85e1

FS
type: SiteQuality
SIO_000300: 1.88182e2

QD
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
all individuals: 5179
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3932
bin: 3.75e1
variant carriers: 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: 6160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59736
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.347541596560104e-5
allele num: 10698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15136
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.13e-1

QD
type: SiteQuality
SIO_000300: 2.982e1

FS
type: SiteQuality
SIO_000300: 3.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

DP
type: SiteQuality
SIO_000300: 1.809258e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

VQSLOD
type: SiteQuality
SIO_000300: -2.797e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeQuality
all individuals: 3471
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.627074520013016e-5
allele num: 61460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15658
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

DP
type: SiteQuality
SIO_000300: 1.817746e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.08e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

FS
type: SiteQuality
SIO_000300: 4.142e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.625e0

GenotypeQuality
all individuals: 3870
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.627074520013016e-5
allele num: 61460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

DP
type: SiteQuality
SIO_000300: 1.817746e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.625e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 4.142e0

QD
type: SiteQuality
SIO_000300: 1.442e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

GenotypeQuality
all individuals: 3577
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 462
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572524845892565e-5
allele num: 63592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.424e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

FS
type: SiteQuality
SIO_000300: 3.482e0

DP
type: SiteQuality
SIO_000300: 1.82297e6

MQ
type: SiteQuality
SIO_000300: 5.883e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.207e0

GenotypeQuality
all individuals: 2451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63678
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.821173e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.735e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.708e0

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 3.81e0

GenotypeQuality
all individuals: 2870
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3480
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63684
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.086484137331595e-4
allele num: 9204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 6.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 1.819051e6

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

QD
type: SiteQuality
SIO_000300: 1.569e1

VQSLOD
type: SiteQuality
SIO_000300: -1.446e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

MQ
type: SiteQuality
SIO_000300: 5.859e1

GenotypeQuality
all individuals: 1146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6384
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.085776330076004e-4
allele num: 9210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63728
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

QD
type: SiteQuality
SIO_000300: 1.482e1

DP
type: SiteQuality
SIO_000300: 1.820454e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.393e0

FS
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeQuality
all individuals: 2456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6461
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.179523472517103e-4
allele num: 8478
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.135680913110282e-5
allele num: 63782
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

FS
type: SiteQuality
SIO_000300: 3.848e0

DP
type: SiteQuality
SIO_000300: 1.820828e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.346e0

QD
type: SiteQuality
SIO_000300: 5.89e0

GenotypeQuality
all individuals: 389
bin: 8.75e1
variant carriers: 36

GenotypeQuality
all individuals: 1367
bin: 5.25e1
variant carriers: 41

GenotypeQuality
all individuals: 1724
bin: 4.25e1
variant carriers: 45

European (Non-Finnish)
type: Population
allele count: 1285
allele frequency: 4.077294072851885e-2
allele num: 31516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 27
allele frequency: 8.582326764144946e-3
allele num: 3146
num of homozygotes: 0

Latino
type: Population
allele count: 25
allele frequency: 4.657228017883755e-3
allele num: 5368
num of homozygotes: 0

East Asian
type: Population
allele count: 40
allele frequency: 9.42507068803016e-3
allele num: 4244
num of homozygotes: 0

African
type: Population
allele count: 30
allele frequency: 5.816207832493214e-3
allele num: 5158
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 1.458333333333333e-2
allele num: 480
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 2.114803625377644e-3
allele num: 9930
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.471e0

VQSLOD
type: SiteQuality
SIO_000300: -9.269e1

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

DP
type: SiteQuality
SIO_000300: 1.750833e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.215e-1

QD
type: SiteQuality
SIO_000300: 2.83e0

MQ
type: SiteQuality
SIO_000300: 5.874e1

FS
type: SiteQuality
SIO_000300: 1.43502e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 1554
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7942
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4060
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177856301531213e-4
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -1.189e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.887e0

VQSLOD
type: SiteQuality
SIO_000300: -8.522999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 5.904e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e0

QD
type: SiteQuality
SIO_000300: 1.117e1

DP
type: SiteQuality
SIO_000300: 1.680048e6

GenotypeQuality
all individuals: 8583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 521
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 17
allele frequency: 1.776384535005225e-3
allele num: 9570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.757778168395148e-4
allele num: 11378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.712387e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

QD
type: SiteQuality
SIO_000300: 1.376e1

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 706
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64664
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.030715316429602e-4
allele num: 9702
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.329e0

FS
type: SiteQuality
SIO_000300: 1.2503e1

DP
type: SiteQuality
SIO_000300: 1.732209e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.91e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 688
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20593
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545308443565336e-5
allele num: 64712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.354e0

QD
type: SiteQuality
SIO_000300: 1.131e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

DP
type: SiteQuality
SIO_000300: 1.734679e6

MQ
type: SiteQuality
SIO_000300: 5.871e1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

GenotypeQuality
all individuals: 8914
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4951
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 1.354e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.734679e6

MQ
type: SiteQuality
SIO_000300: 5.871e1

MQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

GenotypeQuality
all individuals: 2481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3937
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010144185906505e-5
allele num: 66442
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 1.95499e6

QD
type: SiteQuality
SIO_000300: 1.351e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.53e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

GenotypeQuality
all individuals: 1656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7287
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24277
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e0

VQSLOD
type: SiteQuality
SIO_000300: -1.052e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

FS
type: SiteQuality
SIO_000300: 4.513e0

QD
type: SiteQuality
SIO_000300: 1.361e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.84e-1

DP
type: SiteQuality
SIO_000300: 1.957015e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3920
bin: 7.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.534e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.959077e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.281e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3922
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
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: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.673e0

FS
type: SiteQuality
SIO_000300: 2.838e0

QD
type: SiteQuality
SIO_000300: 1.254e1

DP
type: SiteQuality
SIO_000300: 1.959864e6

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7287
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
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: 3
allele frequency: 4.512092407652509e-5
allele num: 66488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.254e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.673e0

FS
type: SiteQuality
SIO_000300: 2.838e0

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.959864e6

GenotypeQuality
all individuals: 24697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7281
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.67e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.168e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.959926e6

VQSLOD
type: SiteQuality
SIO_000300: -1.586e0

GenotypeQuality
all individuals: 1651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3764
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5083
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

MQ
type: SiteQuality
SIO_000300: 5.826e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.99e-1

FS
type: SiteQuality
SIO_000300: 2.789e0

DP
type: SiteQuality
SIO_000300: 1.963161e6

VQSLOD
type: SiteQuality
SIO_000300: -1.88e0

QD
type: SiteQuality
SIO_000300: 1.155e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

GenotypeQuality
all individuals: 3882
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 8.795999999999999e0

DP
type: SiteQuality
SIO_000300: 1.964098e6

MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 1.177e1

VQSLOD
type: SiteQuality
SIO_000300: -9.188e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.706e0

GenotypeQuality
all individuals: 2462
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7274
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1651
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.712e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

MQ
type: SiteQuality
SIO_000300: 5.886e1

DP
type: SiteQuality
SIO_000300: 1.964168e6

QD
type: SiteQuality
SIO_000300: 1.046e1

FS
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.693e0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5070
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 22
allele frequency: 1.332687181972377e-3
allele num: 16508
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.46e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

FS
type: SiteQuality
SIO_000300: 5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.131e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

DP
type: SiteQuality
SIO_000300: 1.964505e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

QD
type: SiteQuality
SIO_000300: 1.184e1

GenotypeQuality
all individuals: 5066
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10814
bin: 6.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.04e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.311e0

DP
type: SiteQuality
SIO_000300: 1.963619e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.156e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -1.306e0

GenotypeQuality
all individuals: 5063
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3855
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.258e0

MQRankSum
type: SiteQuality
SIO_000300: -2.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.418e0

DP
type: SiteQuality
SIO_000300: 1.962344e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

QD
type: SiteQuality
SIO_000300: 1.116e1

MQ
type: SiteQuality
SIO_000300: 5.816e1

FS
type: SiteQuality
SIO_000300: 1.129e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 7261
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5055
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818402230573403e-4
allele num: 16498
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

FS
type: SiteQuality
SIO_000300: 4.46e-1

DP
type: SiteQuality
SIO_000300: 1.960972e6

VQSLOD
type: SiteQuality
SIO_000300: -7.881e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

QD
type: SiteQuality
SIO_000300: 1.057e1

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10785
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507113576079093e-5
allele num: 66352
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 4.46e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

DP
type: SiteQuality
SIO_000300: 1.960972e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

QD
type: SiteQuality
SIO_000300: 1.057e1

VQSLOD
type: SiteQuality
SIO_000300: -7.881e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.631773969430292e-4
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.208e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.417e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 1.960543e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 7257
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.960543e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.417e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 1.208e1