19-49652765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652765
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652765
    reference: chr 19
allele count: 40
allele frequency: 3.422547744541036e-4
allele num: 116872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-39G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-39G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-39G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-39G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-39G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-39G>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14896
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19747
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-49652766-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652766
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652766
    reference: chr 19
allele count: 2
allele frequency: 1.713091444821324e-5
allele num: 116748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-38C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-38C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-38C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-38C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-38C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-38C>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15080
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20037
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

19-49652772-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652772
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652772
    reference: chr 19
allele count: 3
allele frequency: 2.565242671956767e-5
allele num: 116948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-32T>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-32T>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-32T>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-32T>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-32T>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-32T>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21845
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15722
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

19-49652772-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652772
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652773
    reference: chr 19
allele count: 1
allele frequency: 8.550808906522558e-6
allele num: 116948
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-29dupC
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-29dupC
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-29dupC
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-29dupC
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-29dupC
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-29dupC
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28758
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-49652774-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652774
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652774
    reference: chr 19
allele count: 1
allele frequency: 8.543357539513029e-6
allele num: 117050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-30C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-30C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-30C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-30C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-30C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-30C>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

19-49652775-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652775
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652775
    reference: chr 19
allele count: 1
allele frequency: 8.537959769133568e-6
allele num: 117124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-29C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-29C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-29C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-29C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-29C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-29C>G
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

19-49652777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652777
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652777
    reference: chr 19
allele count: 9
allele frequency: 7.694149027117601e-5
allele num: 116972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-27C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-27C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-27C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-27C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-27C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-27C>T
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22821
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16381
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

19-49652779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652779
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652779
    reference: chr 19
allele count: 28
allele frequency: 2.393858044217978e-4
allele num: 116966
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-25C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-25C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-25C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-25C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-25C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-25C>T
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23167
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16544
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-49652781-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652781
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652781
    reference: chr 19
allele count: 9
allele frequency: 7.680098305258307e-5
allele num: 117186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-23G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-23G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-23G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-23G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-23G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-23G>C
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16972
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 9.75e1
  variant carriers: 9
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

19-49652784-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652784
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652784
    reference: chr 19
allele count: 1
allele frequency: 8.500076500688507e-6
allele num: 117646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-20T>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-20T>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-20T>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-20T>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-20T>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-20T>G
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

19-49652788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652788
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652788
    reference: chr 19
allele count: 1
allele frequency: 8.495310588555118e-6
allele num: 117712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-16C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-16C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-16C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-16C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-16C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-16C>T
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18192
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-49652788-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652788
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652788
    reference: chr 19
allele count: 1
allele frequency: 8.495310588555118e-6
allele num: 117712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-16C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-16C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-16C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-16C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-16C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-16C>G
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-49652791-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652791
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652791
    reference: chr 19
allele count: 1
allele frequency: 8.471704506946798e-6
allele num: 118040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-13C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-13C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-13C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-13C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-13C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-13C>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-49652796-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652796
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652796
    reference: chr 19
allele count: 1
allele frequency: 8.443949066099234e-6
allele num: 118428
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.437-8A>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3355-8A>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.502-8A>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3328-8A>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1173-8A>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.604-8A>C
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18929
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
hgvs: c.3355-8A>C
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

19-49652807-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652807
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652807
    reference: chr 19
allele count: 1
allele frequency: 8.397433744247758e-6
allele num: 119084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3331A>G
  hgvsp: ENSP00000473622.1:p.Ser1111Gly
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.440A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.505A>G
  hgvsp: ENSP00000473423.1:p.Ser169Gly
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1176A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.607A>G
  hgvsp: ENSP00000473418.1:p.Ser203Gly
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3358A>G
  hgvsp: ENSP00000335614.3:p.Ser1120Gly
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26727
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38247
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser1120Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

19-49652809-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652809
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652809
    reference: chr 19
allele count: 1
allele frequency: 8.392500461587526e-6
allele num: 119154
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3360C>G
  hgvsp: ENSP00000335614.3:p.Ser1120Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.609C>G
  hgvsp: ENSP00000473418.1:p.Ser203Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.507C>G
  hgvsp: ENSP00000473423.1:p.Ser169Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3333C>G
  hgvsp: ENSP00000473622.1:p.Ser1111Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.442C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1178C>G
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7495
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1120Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

19-49652810-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652810
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652810
    reference: chr 19
allele count: 7
allele frequency: 5.873764411700539e-5
allele num: 119174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1179G>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3334G>T
  hgvsp: ENSP00000473622.1:p.Ala1112Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3361G>T
  hgvsp: ENSP00000335614.3:p.Ala1121Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.508G>T
  hgvsp: ENSP00000473423.1:p.Ala170Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.610G>T
  hgvsp: ENSP00000473418.1:p.Ala204Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.443G>T
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26713
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1121Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-49652822-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652822
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652822
    reference: chr 19
allele count: 1
allele frequency: 8.349336227769892e-6
allele num: 119770
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3373A>C
  hgvsp: ENSP00000335614.3:p.Ser1125Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.520A>C
  hgvsp: ENSP00000473423.1:p.Ser174Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3346A>C
  hgvsp: ENSP00000473622.1:p.Ser1116Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.622A>C
  hgvsp: ENSP00000473418.1:p.Ser208Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1191A>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.455A>C
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20219
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1125Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-49652826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652826
    reference: chr 19
allele count: 3
allele frequency: 2.501667778519013e-5
allele num: 119920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3350G>A
  hgvsp: ENSP00000473622.1:p.Arg1117His
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.459G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.524G>A
  hgvsp: ENSP00000473423.1:p.Arg175His
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.626G>A
  hgvsp: ENSP00000473418.1:p.Arg209His
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1195G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3377G>A
  hgvsp: ENSP00000335614.3:p.Arg1126His
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1126His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-49652829-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652829
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652829
    reference: chr 19
allele count: 2
allele frequency: 1.666555562962469e-5
allele num: 120008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3353C>G
  hgvsp: ENSP00000473622.1:p.Ser1118Cys
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.462C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3380C>G
  hgvsp: ENSP00000335614.3:p.Ser1127Cys
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.629C>G
  hgvsp: ENSP00000473418.1:p.Ser210Cys
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.527C>G
  hgvsp: ENSP00000473423.1:p.Ser176Cys
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1198C>G
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser1127Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

19-49652837-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652837
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652837
    reference: chr 19
allele count: 1
allele frequency: 8.324453915823122e-6
allele num: 120128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3361T>C
  hgvsp: ENSP00000473622.1:p.Trp1121Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1206T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.535T>C
  hgvsp: ENSP00000473423.1:p.Trp179Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.470T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3388T>C
  hgvsp: ENSP00000335614.3:p.Trp1130Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.637T>C
  hgvsp: ENSP00000473418.1:p.Trp213Arg
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp1130Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-49652841-GGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652841
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652838
    reference: chr 19
allele count: 2
allele frequency: 1.664059639897494e-5
allele num: 120188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3395_3397delAGA
  hgvsp: ENSP00000335614.3:p.Lys1132del
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1213_*1215delAGA
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.644_646delAGA
  hgvsp: ENSP00000473418.1:p.Lys215del
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3368_3370delAGA
  hgvsp: ENSP00000473622.1:p.Lys1123del
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.542_544delAGA
  hgvsp: ENSP00000473423.1:p.Lys181del
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.477_479delAGA
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys1132del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: GGAA
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

19-49652866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652866
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652866
    reference: chr 19
allele count: 2
allele frequency: 1.662952738883161e-5
allele num: 120268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.666C>T
  hgvsp: ENST00000602848.1:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.499C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1235C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3417C>T
  hgvsp: ENST00000334186.4:c.3417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.564C>T
  hgvsp: ENST00000602897.1:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3390C>T
  hgvsp: ENST00000602351.1:c.3390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1139Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

19-49652870-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652870
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652870
    reference: chr 19
allele count: 1
allele frequency: 8.314072398942449e-6
allele num: 120278
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3421G>C
  hgvsp: ENSP00000335614.3:p.Gly1141Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3394G>C
  hgvsp: ENSP00000473622.1:p.Gly1132Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.568G>C
  hgvsp: ENSP00000473423.1:p.Gly190Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.670G>C
  hgvsp: ENSP00000473418.1:p.Gly224Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1239G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.503G>C
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly1141Arg
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-49652881-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652881
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652881
    reference: chr 19
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.579C>G
  hgvsp: ENST00000602897.1:c.579C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1250C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3405C>G
  hgvsp: ENST00000602351.1:c.3405C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3432C>G
  hgvsp: ENST00000334186.4:c.3432C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.681C>G
  hgvsp: ENST00000602848.1:c.681C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.514C>G
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8385
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1144Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-49652881-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652881
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652881
    reference: chr 19
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3432C>T
  hgvsp: ENST00000334186.4:c.3432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1250C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.579C>T
  hgvsp: ENST00000602897.1:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3405C>T
  hgvsp: ENST00000602351.1:c.3405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.514C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.681C>T
  hgvsp: ENST00000602848.1:c.681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro1144Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

19-49652882-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652882
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652882
    reference: chr 19
allele count: 2
allele frequency: 1.665417603464068e-5
allele num: 120090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1251G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.515G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.580G>C
  hgvsp: ENSP00000473423.1:p.Asp194His
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3433G>C
  hgvsp: ENSP00000335614.3:p.Asp1145His
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3406G>C
  hgvsp: ENSP00000473622.1:p.Asp1136His
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.682G>C
  hgvsp: ENSP00000473418.1:p.Asp228His
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp1145His
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

19-49652888-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652888
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652888
    reference: chr 19
allele count: 83
allele frequency: 6.917243103591966e-4
allele num: 119990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.688G>T
  hgvsp: ENSP00000473418.1:p.Ala230Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3412G>T
  hgvsp: ENSP00000473622.1:p.Ala1138Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1257G>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.586G>T
  hgvsp: ENSP00000473423.1:p.Ala196Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3439G>T
  hgvsp: ENSP00000335614.3:p.Ala1147Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.521G>T
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25236
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 21212
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 9.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1147Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

19-49652897-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652897
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652897
    reference: chr 19
allele count: 2
allele frequency: 1.670815859384137e-5
allele num: 119702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.595T>C
  hgvsp: ENST00000602897.1:c.595T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3421T>C
  hgvsp: ENST00000602351.1:c.3421T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.530T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.697T>C
  hgvsp: ENST00000602848.1:c.697T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1266T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3448T>C
  hgvsp: ENST00000334186.4:c.3448T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21100
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu1150Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-49652899-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652899
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652900
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 119534
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1274dupC
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3429dupC
  hgvsp: ENSP00000473622.1:p.Asn1144GlnfsTer105
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.603dupC
  hgvsp: ENSP00000473423.1:p.Asn202GlnfsTer49
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.705dupC
  hgvsp: ENSP00000473418.1:p.Asn236GlnfsTer49
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.538dupC
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3456dupC
  hgvsp: ENSP00000335614.3:p.Asn1153GlnfsTer49
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21079
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn1153GlnfsTer49
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

19-49652907-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652907
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652907
    reference: chr 19
allele count: 2
allele frequency: 1.677148846960168e-5
allele num: 119250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1276A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3458A>G
  hgvsp: ENSP00000335614.3:p.Asn1153Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3431A>G
  hgvsp: ENSP00000473622.1:p.Asn1144Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.707A>G
  hgvsp: ENSP00000473418.1:p.Asn236Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.605A>G
  hgvsp: ENSP00000473423.1:p.Asn202Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.540A>G
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn1153Ser
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-49652911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652911
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652911
    reference: chr 19
allele count: 2
allele frequency: 1.680785262874815e-5
allele num: 118992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.711T>C
  hgvsp: ENST00000602848.1:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1280T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.544T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3435T>C
  hgvsp: ENST00000602351.1:c.3435T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.609T>C
  hgvsp: ENST00000602897.1:c.609T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3462T>C
  hgvsp: ENST00000334186.4:c.3462T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20739
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe1154Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-49652917-GGCTGCAGCGGGAGCCCTGGGCTCTCCGGGGCTCCCTCTCCGCAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652917
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652873
    reference: chr 19
allele count: 4
allele frequency: 3.39656607170151e-5
allele num: 117766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsp: ENSP00000473622.1:p.Gly1151ArgfsTer83
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsp: ENSP00000335614.3:p.Gly1160ArgfsTer27
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsp: ENSP00000473418.1:p.Gly243ArgfsTer27
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsp: ENSP00000473423.1:p.Gly209ArgfsTer27
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20114
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly1160ArgfsTer27
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: GGCTGCAGCGGGAGCCCTGGGCTCTCCGGGGCTCCCTCTCCGCAA
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

19-49652926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652926
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652926
    reference: chr 19
allele count: 1
allele frequency: 8.581333882538702e-6
allele num: 116532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.726G>A
  hgvsp: ENST00000602848.1:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1295G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3450G>A
  hgvsp: ENST00000602351.1:c.3450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3477G>A
  hgvsp: ENST00000334186.4:c.3477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.559G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.624G>A
  hgvsp: ENST00000602897.1:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1159Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-49652932-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652932
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652932
    reference: chr 19
allele count: 1
allele frequency: 8.661008141347653e-6
allele num: 115460
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3483C>A
  hgvsp: ENST00000334186.4:c.3483C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3456C>A
  hgvsp: ENST00000602351.1:c.3456C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1301C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.732C>A
  hgvsp: ENST00000602848.1:c.732C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.630C>A
  hgvsp: ENST00000602897.1:c.630C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.565C>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1161Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-49652936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652936
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652936
    reference: chr 19
allele count: 2
allele frequency: 1.747030048916841e-5
allele num: 114480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1305G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.634G>A
  hgvsp: ENSP00000473423.1:p.Gly212Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.569G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.736G>A
  hgvsp: ENSP00000473418.1:p.Gly246Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3460G>A
  hgvsp: ENSP00000473622.1:p.Gly1154Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3487G>A
  hgvsp: ENSP00000335614.3:p.Gly1163Ser
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4885
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly1163Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-49652942-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652942
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652942
    reference: chr 19
allele count: 3
allele frequency: 2.629364745477493e-5
allele num: 114096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.742C>G
  hgvsp: ENSP00000473418.1:p.Pro248Ala
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.640C>G
  hgvsp: ENSP00000473423.1:p.Pro214Ala
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3466C>G
  hgvsp: ENSP00000473622.1:p.Pro1156Ala
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.575C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1311C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3493C>G
  hgvsp: ENSP00000335614.3:p.Pro1165Ala
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20484
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1165Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-49652944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652944
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652944
    reference: chr 19
allele count: 7
allele frequency: 6.160887167752157e-5
allele num: 113620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.642G>A
  hgvsp: ENST00000602897.1:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3468G>A
  hgvsp: ENST00000602351.1:c.3468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1313G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3495G>A
  hgvsp: ENST00000334186.4:c.3495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.744G>A
  hgvsp: ENST00000602848.1:c.744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.577G>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1165Pro
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: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

19-49652947-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652947
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652947
    reference: chr 19
allele count: 5
allele frequency: 4.425013717542525e-5
allele num: 112994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1316G>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3471G>T
  hgvsp: ENST00000602351.1:c.3471G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.645G>T
  hgvsp: ENST00000602897.1:c.645G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3498G>T
  hgvsp: ENST00000334186.4:c.3498G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.747G>T
  hgvsp: ENST00000602848.1:c.747G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.580G>T
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20369
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1166Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

19-49652964-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652964
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652964
    reference: chr 19
allele count: 1
allele frequency: 9.097359946143629e-6
allele num: 109922
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3515T>C
  hgvsp: ENSP00000335614.3:p.Leu1172Pro
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1333T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.764T>C
  hgvsp: ENSP00000473418.1:p.Leu255Pro
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.597T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.662T>C
  hgvsp: ENSP00000473423.1:p.Leu221Pro
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3488T>C
  hgvsp: ENSP00000473622.1:p.Leu1163Pro
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1172Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-49652977-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652977
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652978
    reference: chr 19
allele count: 1
allele frequency: 9.275233272116794e-6
allele num: 107814
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3526+8dupG
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3499+8dupG
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.608+8dupG
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.775+8dupG
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.673+8dupG
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1344+8dupG
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30546
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.5e0
  variant carriers: 0
hgvs: c.3526+8dupG
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

19-49652983-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652983
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652983
    reference: chr 19
allele count: 1
allele frequency: 9.340905694216111e-6
allele num: 107056
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3526+8G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.608+8G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3499+8G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.775+8G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1344+8G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.673+8G>C
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 7.75e1
  variant carriers: 0
hgvs: c.3526+8G>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-49652986-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652986
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652986
    reference: chr 19
allele count: 1
allele frequency: 9.356462508654729e-6
allele num: 106878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.608+11C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.673+11C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3499+11C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.775+11C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3526+11C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1344+11C>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

19-49652986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652986
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652986
    reference: chr 19
allele count: 1
allele frequency: 9.356462508654729e-6
allele num: 106878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.673+11C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.775+11C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3499+11C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3526+11C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1344+11C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.608+11C>T
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-49652988-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49652988
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49652987
    reference: chr 19
allele count: 88
allele frequency: 8.269122345423793e-4
allele num: 106420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.608+16delA
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1344+16delA
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3499+16delA
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.775+16delA
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3526+16delA
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.673+16delA
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 20385
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17828
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: CA
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-49653006-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653006
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653006
    reference: chr 19
allele count: 1
allele frequency: 9.638740023904075e-6
allele num: 103748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.775+31C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1344+31C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3526+31C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.673+31C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.608+31C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3499+31C>T
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3691
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-49653013-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653013
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 103038
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.673+38C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1344+38C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.608+38C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3499+38C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3526+38C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.775+38C>G
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

19-49653015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653015
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653015
    reference: chr 19
allele count: 1
allele frequency: 9.736908726217601e-6
allele num: 102702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.775+40C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3499+40C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.673+40C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3526+40C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.608+40C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1344+40C>T
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-49653017-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653017
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653017
    reference: chr 19
allele count: 1
allele frequency: 9.75781112780781e-6
allele num: 102482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3499+42A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.608+42A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3526+42A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.775+42A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1344+42A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.673+42A>G
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

19-49653022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653022
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653022
    reference: chr 19
allele count: 1
allele frequency: 9.800654683732874e-6
allele num: 102034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3499+47G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.608+47G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1344+47G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.673+47G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3526+47G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.775+47G>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13119
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5503
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

19-49653286-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653286
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653286
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 59540
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-51G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-51G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-51G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.72G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-51G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-51G>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-51G>C
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23723
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6049
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14464
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-49653289-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653289
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653289
    reference: chr 19
allele count: 15
allele frequency: 2.522110502068131e-4
allele num: 59474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-48C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-48C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-48C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.75C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-48C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-48C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-48C>A
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23699
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14703
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5893
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6044
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3683
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

19-49653292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653292
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653292
    reference: chr 19
allele count: 1
allele frequency: 1.670564650851988e-5
allele num: 59860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-45G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-45G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.78G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-45G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-45G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-45G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-45G>A
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23762
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4986
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-49653297-AGGGTGCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653297
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653290
    reference: chr 19
allele count: 2
allele frequency: 3.316749585406302e-5
allele num: 60300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.84_90delGGGTGCT
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-39_3527-33delGGGTGCT
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-39_*1345-33delGGGTGCT
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-39_3500-33delGGGTGCT
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-39_776-33delGGGTGCT
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-39_609-33delGGGTGCT
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-39_674-33delGGGTGCT
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14641
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4814
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: AGGGTGCT
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

19-49653299-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653299
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653299
    reference: chr 19
allele count: 127
allele frequency: 2.088472290741654e-3
allele num: 60810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.85G>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-38G>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-38G>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-38G>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-38G>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-38G>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-38G>T
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14581
  bin: 1.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 24189
  bin: 7.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5925
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21136
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4666
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-49653300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653300
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653300
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 61036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.86G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-37G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-37G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-37G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-37G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-37G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-37G>A
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 24283
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21710
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/19-49653305-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653305
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653305
    reference: chr 19
allele count: 3
allele frequency: 4.808925365478328e-5
allele num: 62384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.91C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-32C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-32C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-32C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-32C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-32C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-32C>A
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-49653314-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653314
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653314
    reference: chr 19
allele count: 1
allele frequency: 1.540689612670631e-5
allele num: 64906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-23A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-23A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-23A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-23A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-23A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-23A>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.100A>G
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-49653315-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653315
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653315
    reference: chr 19
allele count: 1
allele frequency: 1.535720867375146e-5
allele num: 65116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-22C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-22C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.101C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-22C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-22C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-22C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-22C>G
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10798
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24734
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-49653316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653316
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653316
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 65372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-21C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-21C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-21C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.102C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-21C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-21C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-21C>T
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-49653324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653324
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653324
    reference: chr 19
allele count: 1
allele frequency: 1.434020707259013e-5
allele num: 69734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-13G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-13G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-13G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.110G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-13G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-13G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-13G>A
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-49653325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653325
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653325
    reference: chr 19
allele count: 1
allele frequency: 1.416751671766973e-5
allele num: 70584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-12C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.111C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-12C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-12C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-12C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-12C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-12C>T
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

19-49653326-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653326
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653326
    reference: chr 19
allele count: 1
allele frequency: 1.402603231597846e-5
allele num: 71296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-11T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-11T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-11T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.112T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-11T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-11T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-11T>C
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23981
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

19-49653327-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653327
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653327
    reference: chr 19
allele count: 9
allele frequency: 1.253412066180157e-4
allele num: 71804
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-10C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.113C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-10C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-10C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-10C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-10C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-10C>G
  variant of: http://identifiers.org/hgnc/9247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17456
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

19-49653329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653329
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653329
    reference: chr 19
allele count: 1
allele frequency: 1.374457089449667e-5
allele num: 72756
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-8C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-8C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-8C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.115C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-8C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-8C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-8C>T
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.5e0
  variant carriers: 0
hgvs: c.3527-8C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-49653330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653330
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653330
    reference: chr 19
allele count: 1
allele frequency: 1.361359181006317e-5
allele num: 73456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.609-7C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3527-7C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1345-7C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.116C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.674-7C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3500-7C>T
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.776-7C>T
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18721
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
hgvs: c.3527-7C>T
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/19-49653338-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653338
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653338
    reference: chr 19
allele count: 1
allele frequency: 1.283268742139979e-5
allele num: 77926
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3528C>A
  hgvsp: ENST00000334186.4:c.3528C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.777C>A
  hgvsp: ENST00000602848.1:c.777C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.675C>A
  hgvsp: ENST00000602897.1:c.675C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.610C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1346C>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3501C>A
  hgvsp: ENST00000602351.1:c.3501C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.124C>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
hgvs: c.3528C>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

19-49653343-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653343
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653343
    reference: chr 19
allele count: 1
allele frequency: 1.24890720619458e-5
allele num: 80070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.615C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1351C>G
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.680C>G
  hgvsp: ENSP00000473423.1:p.Thr227Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3506C>G
  hgvsp: ENSP00000473622.1:p.Thr1169Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3533C>G
  hgvsp: ENSP00000335614.3:p.Thr1178Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.782C>G
  hgvsp: ENSP00000473418.1:p.Thr261Ser
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.129C>G
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22824
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr1178Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

19-49653348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653348
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653348
    reference: chr 19
allele count: 2
allele frequency: 2.457968734637696e-5
allele num: 81368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.685G>A
  hgvsp: ENSP00000473423.1:p.Gly229Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.134G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3511G>A
  hgvsp: ENSP00000473622.1:p.Gly1171Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3538G>A
  hgvsp: ENSP00000335614.3:p.Gly1180Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.787G>A
  hgvsp: ENSP00000473418.1:p.Gly263Arg
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.620G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1356G>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23228
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24630
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1180Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-49653359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653359
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653359
    reference: chr 19
allele count: 1
allele frequency: 1.186042650093697e-5
allele num: 84314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.696G>A
  hgvsp: ENST00000602897.1:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3522G>A
  hgvsp: ENST00000602351.1:c.3522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.798G>A
  hgvsp: ENST00000602848.1:c.798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.145G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1367G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.631G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3549G>A
  hgvsp: ENST00000334186.4:c.3549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1183Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

19-49653369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653369
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653369
    reference: chr 19
allele count: 1
allele frequency: 1.16989166803154e-5
allele num: 85478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.706G>A
  hgvsp: ENSP00000473423.1:p.Val236Ile
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.808G>A
  hgvsp: ENSP00000473418.1:p.Val270Ile
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.155G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3532G>A
  hgvsp: ENSP00000473622.1:p.Val1178Ile
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1377G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3559G>A
  hgvsp: ENSP00000335614.3:p.Val1187Ile
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.641G>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val1187Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

19-49653370-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653370
    reference: chr 19
allele count: 1
allele frequency: 1.165311021511642e-5
allele num: 85814
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473622
  ensembl transcript: ENST00000602351
  gene symbol: PPFIA3
  hgvsc: ENST00000602351.1:c.3533T>C
  hgvsp: ENSP00000473622.1:p.Val1178Ala
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602905
  gene symbol: PPFIA3
  hgvsc: ENST00000602905.1:n.642T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.707T>C
  hgvsp: ENSP00000473423.1:p.Val236Ala
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473418
  ensembl transcript: ENST00000602848
  gene symbol: PPFIA3
  hgvsc: ENST00000602848.1:c.809T>C
  hgvsp: ENSP00000473418.1:p.Val270Ala
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1378T>C
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3560T>C
  hgvsp: ENSP00000335614.3:p.Val1187Ala
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.156T>C
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1187Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

19-49653379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49653379
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49653379
    reference: chr 19
allele count: 1
allele frequency: 1.172277970552377e-5
allele num: 85304
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000335614
  ensembl transcript: ENST00000334186
  gene symbol: PPFIA3
  hgvsc: ENST00000334186.4:c.3569G>A
  hgvsp: ENSP00000335614.3:p.Arg1190Gln
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473470
  ensembl transcript: ENST00000602655
  gene symbol: PPFIA3
  hgvsc: ENST00000602655.1:c.*1387G>A
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177380
  ensembl protein: ENSP00000473423
  ensembl transcript: ENST00000602897
  gene symbol: PPFIA3
  hgvsc: ENST00000602897.1:c.716G>A
  hgvsp: ENSP00000473423.1:p.Arg239Gln
  variant of: http://identifiers.org/hgnc/9247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177380
  ensembl transcript: ENST00000602783
  gene symbol: PPFIA3
  hgvsc: ENST00000602783.1:n.165G>A
  variant of: http://identifiers.org/hgnc/9247
canonical: true
consequence: missense
filter: PASS
hgvs: p.Arg1190Gln
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 6793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26361
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1951
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3359
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 6.05477240265789e-4
allele num: 64412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.596424010217114e-4
allele num: 6264
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11050
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.872e0

FS
type: SiteQuality
SIO_000300: 6.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.403973e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

GenotypeQuality
all individuals: 2417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3281
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.056330374932077e-5
allele num: 11042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64318
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17813383600377e-4
allele num: 8488
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.409134e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

FS
type: SiteQuality
SIO_000300: 5.035e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.487e0

QD
type: SiteQuality
SIO_000300: 4.18e0

VQSLOD
type: SiteQuality
SIO_000300: -2.117e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2870
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3400
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64426
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.083881578947368e-4
allele num: 9728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

FS
type: SiteQuality
SIO_000300: 7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 1.430434e6

GenotypeQuality
all individuals: 175
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3400
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.213495712687958e-5
allele num: 16094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.430434e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

GenotypeQuality
all individuals: 1722
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 907
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550916591705698e-5
allele num: 64478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.743e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 2.75e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.34e-1

DP
type: SiteQuality
SIO_000300: 1.440888e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 1737
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549426712116517e-5
allele num: 64540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16114
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11104
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.871e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.374e0

QD
type: SiteQuality
SIO_000300: 9.24e0

FS
type: SiteQuality
SIO_000300: 1.5167e1

DP
type: SiteQuality
SIO_000300: 1.445046e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e0

VQSLOD
type: SiteQuality
SIO_000300: -4.837e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

GenotypeQuality
all individuals: 2544
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2597
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.396864814527394e-4
allele num: 64430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.451431e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.962e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

FS
type: SiteQuality
SIO_000300: 2.408e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 2626
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 713
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.51979841612671e-3
allele num: 11112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e0

DP
type: SiteQuality
SIO_000300: 1.458811e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

FS
type: SiteQuality
SIO_000300: 3.296e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
all individuals: 186
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1807
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2652
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.394311210262131e-4
allele num: 64548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 1.467537e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 3.096e0

QD
type: SiteQuality
SIO_000300: 1.334e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

GenotypeQuality
all individuals: 483
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7652
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543733983759918e-5
allele num: 64778
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.073e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.584e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.482752e6

FS
type: SiteQuality
SIO_000300: 4.747e0

MQ
type: SiteQuality
SIO_000300: 5.657e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7723
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543114622554163e-5
allele num: 64804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.495735e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.353e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 4.28e0

GenotypeQuality
all individuals: 1734
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543114622554163e-5
allele num: 64804
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.495735e6

VQSLOD
type: SiteQuality
SIO_000300: -2.353e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

QD
type: SiteQuality
SIO_000300: 4.28e0

GenotypeQuality
all individuals: 441
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1605
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539124545958259e-5
allele num: 64972
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.50527e6

QD
type: SiteQuality
SIO_000300: 1.07e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.325e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
all individuals: 728
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36551
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7964
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: 8574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65188
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

FS
type: SiteQuality
SIO_000300: 1.6244e1

QD
type: SiteQuality
SIO_000300: 1.036e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

DP
type: SiteQuality
SIO_000300: 1.517919e6

VQSLOD
type: SiteQuality
SIO_000300: -2.138e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
all individuals: 8208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 732
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526531110704036e-5
allele num: 65508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.927e0

QD
type: SiteQuality
SIO_000300: 9.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 1.076e0

DP
type: SiteQuality
SIO_000300: 1.539473e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2891
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8223
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65540
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.788890841975742e-5
allele num: 11378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.716e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

FS
type: SiteQuality
SIO_000300: 3.477e0

QD
type: SiteQuality
SIO_000300: 9.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.2e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.542459e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38282
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.285014691478942e-4
allele num: 16336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.175e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

FS
type: SiteQuality
SIO_000300: 7.32e0

DP
type: SiteQuality
SIO_000300: 1.545988e6

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

GenotypeQuality
all individuals: 39307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2923
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 9.75e1
variant carriers: 1

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: 65870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.895e1

FS
type: SiteQuality
SIO_000300: 1.691e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.708e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.476e0

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

DP
type: SiteQuality
SIO_000300: 1.557554e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 1041
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39347
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.032692424334324e-5
allele num: 65948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.381e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.0462e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

DP
type: SiteQuality
SIO_000300: 1.56159e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 39371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 188
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
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: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030578537442798e-5
allele num: 65994
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.318e1

FS
type: SiteQuality
SIO_000300: 1.867e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.563003e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2931
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514096235956757e-5
allele num: 66046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.573e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.566173e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 7.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
all individuals: 204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026176426085641e-5
allele num: 66090
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 5.764e1

QD
type: SiteQuality
SIO_000300: 1.285e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 9.429999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.258e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

DP
type: SiteQuality
SIO_000300: 1.56836e6

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39064
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511990081345066e-5
allele num: 66138
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: 892
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 2.828e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.568343e6

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

GenotypeQuality
all individuals: 1627
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 247
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66138
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

DP
type: SiteQuality
SIO_000300: 1.5679e6

QD
type: SiteQuality
SIO_000300: 1.032e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.164e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.245e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

GenotypeQuality
all individuals: 289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1625
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514600751241973e-5
allele num: 66024
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

DP
type: SiteQuality
SIO_000300: 1.565117e6

QD
type: SiteQuality
SIO_000300: 1.238e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8385
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

DP
type: SiteQuality
SIO_000300: 1.565117e6

FS
type: SiteQuality
SIO_000300: 5.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

GenotypeQuality
all individuals: 1626
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8386
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029385034837928e-5
allele num: 66020
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

DP
type: SiteQuality
SIO_000300: 1.564201e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.25e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

FS
type: SiteQuality
SIO_000300: 9.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 2893
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

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

East Asian
type: Population
allele count: 81
allele frequency: 9.414225941422594e-3
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516346212167162e-5
allele num: 65948
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.249e0

DP
type: SiteQuality
SIO_000300: 1.564211e6

QD
type: SiteQuality
SIO_000300: 1.187e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
all individuals: 1626
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.982553528945282e-4
allele num: 10088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

FS
type: SiteQuality
SIO_000300: 5.682e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.376e1

DP
type: SiteQuality
SIO_000300: 1.555025e6

GenotypeQuality
all individuals: 446
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8319
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65624
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.525e-1

QD
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 6.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.555061e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36739
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2783
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.993223041658362e-4
allele num: 10034
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65456
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 3.562e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.543125e6

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeQuality
all individuals: 2859
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.064007108496492e-5
allele num: 65274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.342e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 1.533967e6

GenotypeQuality
all individuals: 699
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2753
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 9.75e1
variant carriers: 2

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: 8538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.576789656259855e-4
allele num: 6342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.647848046354538e-5
allele num: 64546
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.386e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.24e-1

FS
type: SiteQuality
SIO_000300: 6.671e0

DP
type: SiteQuality
SIO_000300: 1.511837e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.729e0

MQ
type: SiteQuality
SIO_000300: 5.788e1

QD
type: SiteQuality
SIO_000300: 8.0e-2

GenotypeQuality
all individuals: 1569
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2777
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7726
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.823010411152286e-5
allele num: 11334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.500654e6

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 6.431e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 2.989e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 7668
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4484
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576739932515531e-5
allele num: 63422
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.597e0

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 2.759e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.27e-1

QD
type: SiteQuality
SIO_000300: 1.02e1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e-1

DP
type: SiteQuality
SIO_000300: 1.485323e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

GenotypeQuality
all individuals: 942
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30805
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7361
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.271617497456765e-4
allele num: 15728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62868
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 8.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.045e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

DP
type: SiteQuality
SIO_000300: 1.469757e6

GenotypeQuality
all individuals: 627
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4948
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2754
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15682
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.823151125401929e-4
allele num: 6220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 4.023e0

DP
type: SiteQuality
SIO_000300: 1.465889e6

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.267e1

GenotypeQuality
all individuals: 1112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 384
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.121399506584217e-4
allele num: 62422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15582
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 3.266e0

DP
type: SiteQuality
SIO_000300: 1.46574e6

QD
type: SiteQuality
SIO_000300: 9.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.27e-1

GenotypeQuality
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31503
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 662
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.046605941613827e-5
allele num: 62138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8754
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.203e0

FS
type: SiteQuality
SIO_000300: 6.262e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.456662e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

QD
type: SiteQuality
SIO_000300: 1.05e1

GenotypeQuality
all individuals: 1579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6826
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30881
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.639828146010298e-5
allele num: 60982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 1.068e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

QD
type: SiteQuality
SIO_000300: 1.26e1

DP
type: SiteQuality
SIO_000300: 1.413265e6

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -2.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.02e-1

MQ
type: SiteQuality
SIO_000300: 5.797e1

GenotypeQuality
all individuals: 383
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6951
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.871540099361249e-5
allele num: 11272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

QD
type: SiteQuality
SIO_000300: 8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

DP
type: SiteQuality
SIO_000300: 1.396626e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6914
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 673
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.659475605708596e-5
allele num: 60260
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.97e-1

FS
type: SiteQuality
SIO_000300: 1.366e0

DP
type: SiteQuality
SIO_000300: 1.389284e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

MQ
type: SiteQuality
SIO_000300: 5.79e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.741e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

GenotypeQuality
all individuals: 672
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6717
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1580
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11764
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.659640853719255e-5
allele num: 60254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.388579e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.696e0

QD
type: SiteQuality
SIO_000300: 6.88e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQ
type: SiteQuality
SIO_000300: 5.855e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

GenotypeQuality
all individuals: 868
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 921
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.500510030601836e-5
allele num: 11764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.388579e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 6.88e0

VQSLOD
type: SiteQuality
SIO_000300: -2.696e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.25e-1

GenotypeQuality
all individuals: 430
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 9.75e1
variant carriers: 87

GenotypeQuality
all individuals: 672
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.665718855518038e-4
allele num: 11254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 80
allele frequency: 1.331557922769641e-3
allele num: 60080
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.078288353999514e-4
allele num: 8226
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

FS
type: SiteQuality
SIO_000300: 2.794e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

DP
type: SiteQuality
SIO_000300: 1.385811e6

GenotypeQuality
all individuals: 5217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27310
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59242
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.947745168217609e-5
allele num: 11176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: -5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.12e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.337763e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.115e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.235e0

GenotypeQuality
all individuals: 1084
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3792
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6167
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

FS
type: SiteQuality
SIO_000300: 1.875e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 1.309013e6

GenotypeQuality
all individuals: 1543
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1585
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 732
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.219512195121951e-4
allele num: 8200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.298106e6

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

FS
type: SiteQuality
SIO_000300: 4.399e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

QD
type: SiteQuality
SIO_000300: 1.223e1

GenotypeQuality
all individuals: 1280
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3052
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5933
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4375
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.063829787234043e-4
allele num: 9400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58822
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.285711e6

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.93e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

VQSLOD
type: SiteQuality
SIO_000300: -1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2860
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 421
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.079447322970639e-4
allele num: 9264
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.27537e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.103e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

GenotypeQuality
all individuals: 4762
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32996
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.276e1

DP
type: SiteQuality
SIO_000300: 7.5461e5

VQSLOD
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

GenotypeQuality
all individuals: 4926
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16874
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4671
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.033244358165494e-5
allele num: 32968
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 2.05761316872428e-3
allele num: 6318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.013863773357444e-4
allele num: 3318
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.175e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 7.59185e5

FS
type: SiteQuality
SIO_000300: 7.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.347e0

GenotypeQuality
all individuals: 4701
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4471
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6032
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3652
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3358
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.838646202282565e-5
allele num: 10164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1926
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

MQ
type: SiteQuality
SIO_000300: 3.971e1

VQSLOD
type: SiteQuality
SIO_000300: -1.858e0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 2.922e1

DP
type: SiteQuality
SIO_000300: 7.66503e5

GenotypeQuality
all individuals: 1183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5942
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3483
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3567
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.958480219349785e-4
allele num: 10212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3402
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.33e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.166e0

FS
type: SiteQuality
SIO_000300: 2.733e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 7.80436e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 8.94e0

GenotypeQuality
all individuals: 1044
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1150
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 605
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 7227
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3519
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1780
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1179
bin: 9.75e1
variant carriers: 121

African
type: Population
allele count: 123
allele frequency: 1.912313432835821e-2
allele num: 6432
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.901915264074289e-4
allele num: 3446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.895741904874867e-5
allele num: 33724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

FS
type: SiteQuality
SIO_000300: 6.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

DP
type: SiteQuality
SIO_000300: 7.87135e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

GenotypeQuality
all individuals: 5937
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 430
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4653
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1990
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

FS
type: SiteQuality
SIO_000300: 4.493e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

DP
type: SiteQuality
SIO_000300: 7.89062e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

QD
type: SiteQuality
SIO_000300: 1.481e1

GenotypeQuality
all individuals: 8666
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3140
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 751
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22522
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.928268414963363e-4
allele num: 10372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.887502887502887e-5
allele num: 34632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2086
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.402e0

QD
type: SiteQuality
SIO_000300: 1.392e1

MQ
type: SiteQuality
SIO_000300: 4.424e1

MQRankSum
type: SiteQuality
SIO_000300: -2.166e0

DP
type: SiteQuality
SIO_000300: 8.14112e5

FS
type: SiteQuality
SIO_000300: 7.087e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

GenotypeQuality
all individuals: 164
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4068
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.490312965722802e-4
allele num: 6710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 1.679e1

FS
type: SiteQuality
SIO_000300: 2.648e0

DP
type: SiteQuality
SIO_000300: 8.61057e5

MQ
type: SiteQuality
SIO_000300: 5.813e1

VQSLOD
type: SiteQuality
SIO_000300: -2.603e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.248e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.71e-1

GenotypeQuality
all individuals: 12719
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1139
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.757707793282224e-5
allele num: 36262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 4.97e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

DP
type: SiteQuality
SIO_000300: 8.67028e5

GenotypeQuality
all individuals: 1111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24578
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 666
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13146
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

FS
type: SiteQuality
SIO_000300: 2.248e0

DP
type: SiteQuality
SIO_000300: 8.74236e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.302e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

QD
type: SiteQuality
SIO_000300: 7.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.917e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

GenotypeQuality
all individuals: 427
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 662
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7008
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.853911753800519e-4
allele num: 5394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.087e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e0

FS
type: SiteQuality
SIO_000300: 7.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

QD
type: SiteQuality
SIO_000300: 1.284e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.168e0

DP
type: SiteQuality
SIO_000300: 9.39409e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

GenotypeQuality
all individuals: 465
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3015
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18663
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39642
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.184423218221895e-5
allele num: 10888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.845e0

DP
type: SiteQuality
SIO_000300: 9.47762e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 537
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2913
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.49500998003992e-5
allele num: 40080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.359e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.55531e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.782e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 6.6e0

GenotypeQuality
all individuals: 2801
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 729
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19775
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5568
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.894736842105263e-3
allele num: 4750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2518
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40422
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.107e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

DP
type: SiteQuality
SIO_000300: 9.63362e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23352
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.442956955098451e-5
allele num: 40934
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 9.76397e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 9.92e0

GenotypeQuality
all individuals: 1177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2583
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20918
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.756851721714687e-4
allele num: 5692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41370
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

FS
type: SiteQuality
SIO_000300: 9.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.8377e5

GenotypeQuality
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2541
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21719
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.267059623668102e-5
allele num: 44110
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.963e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.72e-1

DP
type: SiteQuality
SIO_000300: 1.032165e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.597e0

QD
type: SiteQuality
SIO_000300: 7.75e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.01e-1

GenotypeQuality
all individuals: 820
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 9.75e1
variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.198672002110725e-5
allele num: 45482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.76e-1

DP
type: SiteQuality
SIO_000300: 1.052919e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.5e-1

MQ
type: SiteQuality
SIO_000300: 5.836e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.94e0

VQSLOD
type: SiteQuality
SIO_000300: -2.931e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.039e0

MQRankSum
type: SiteQuality
SIO_000300: -3.244e0

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20369
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 450
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.318535152876144e-5
allele num: 46312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2968
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 7.9e0

DP
type: SiteQuality
SIO_000300: 1.066705e6

GenotypeQuality
all individuals: 2744
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.536098310291859e-4
allele num: 6510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3112
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 1.488e1

DP
type: SiteQuality
SIO_000300: 1.092497e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.334e0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

GenotypeQuality
all individuals: 431
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 765
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19825
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.376612497905847e-5
allele num: 11938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48746
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: -1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.101149e6

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1325
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19830
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27685
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.519756838905775e-4
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.115e0

FS
type: SiteQuality
SIO_000300: 1.3262e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.102823e6

VQSLOD
type: SiteQuality
SIO_000300: -1.802e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1