17-76411117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76411117
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76411117
    reference: chr 17
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.670+9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1180+9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1551+9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1150+9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1146+9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-4510C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.696+9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*35+9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1099+9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.202+9C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-76411122-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76411122
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76411122
    reference: chr 17
allele count: 1
allele frequency: 8.324315325064513e-6
allele num: 120130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1099+14A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.670+14A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.202+14A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1180+14A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1551+14A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1150+14A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*35+14A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.696+14A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-4505A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1146+14A>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-76411123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76411123
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76411123
    reference: chr 17
allele count: 68
allele frequency: 5.662985725944802e-4
allele num: 120078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-4504G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1551+15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.202+15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1180+15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.696+15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1099+15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1146+15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1150+15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.670+15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*35+15G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15579
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11470
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-76411128-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76411128
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76411128
    reference: chr 17
allele count: 1
allele frequency: 8.351009637065121e-6
allele num: 119746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1099+20A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*35+20A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-4499A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1180+20A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.670+20A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.202+20A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1551+20A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1146+20A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.696+20A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1150+20A>C
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-76411138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76411138
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76411138
    reference: chr 17
allele count: 14
allele frequency: 1.199945145364783e-4
allele num: 116672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.670+30G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.696+30G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-4489G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.202+30G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1180+30G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1150+30G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*35+30G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1099+30G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1551+30G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1146+30G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12960
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

17-76411140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76411140
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76411140
    reference: chr 17
allele count: 4
allele frequency: 3.501155381275821e-5
allele num: 114248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1099+32G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.696+32G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.202+32G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1551+32G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1146+32G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1150+32G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.670+32G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1180+32G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*35+32G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-4487G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12223
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-76411143-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76411143
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76411143
    reference: chr 17
allele count: 1
allele frequency: 9.491808569204777e-6
allele num: 105354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1099+35G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.670+35G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-4484G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1150+35G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.202+35G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1551+35G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1146+35G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.696+35G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1180+35G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*35+35G>C
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13247
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6722
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-76411145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76411145
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76411145
    reference: chr 17
allele count: 1
allele frequency: 1.338974880831236e-5
allele num: 74684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*35+37G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1551+37G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1180+37G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.696+37G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.202+37G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-4482G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.670+37G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1150+37G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1099+37G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1146+37G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-76411146-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76411146
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76411147
    reference: chr 17
allele count: 2
allele frequency: 2.693457591510222e-5
allele num: 74254
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1146+38_1146+39insC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1180+38_*1180+39insC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.202+38_202+39insC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*35+38_*35+39insC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1551+38_1551+39insC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-4481_256-4480insC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.670+38_670+39insC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.696+38_696+39insC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1150+38_*1150+39insC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1099+38_1099+39insC
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

17-76411149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76411149
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76411149
    reference: chr 17
allele count: 1
allele frequency: 2.013206635529071e-5
allele num: 49672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1150+41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1551+41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-4478G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*35+41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1146+41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.202+41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.670+41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.696+41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1180+41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1099+41G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10887
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-76411152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76411152
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76411152
    reference: chr 17
allele count: 5
allele frequency: 1.142752662613704e-4
allele num: 43754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.670+44G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.202+44G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-4475G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1180+44G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*35+44G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1099+44G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1551+44G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1150+44G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.696+44G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1146+44G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

17-76411154-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76411154
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76411155
    reference: chr 17
allele count: 82931
allele frequency: 7.367976829311631e-1
allele num: 112556
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1146+51dupG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.670+51dupG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1099+51dupG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*35+51dupG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1551+51dupG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.696+51dupG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1180+51dupG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-4468dupG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1150+51dupG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.202+51dupG
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14123
  bin: 2.25e1
  variant carriers: 13029
genotype depth: GenotypeDepth
  all individuals: 15191
  bin: 1.75e1
  variant carriers: 14007
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 1.25e1
  variant carriers: 8587
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 919
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9443
  bin: 2.75e1
  variant carriers: 8504
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 7.5e0
  variant carriers: 2361
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 1999
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 3.25e1
  variant carriers: 4460
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 377
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 234
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 227
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 5.75e1
  variant carriers: 3294
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.75e1
  variant carriers: 1412
num of homozygotes: 31186
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

17-76415577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415577
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415577
    reference: chr 17
allele count: 2
allele frequency: 1.671318503167149e-5
allele num: 119666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-50G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-50G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-50G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-50G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-50G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-50G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-50G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-50G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-50G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-50G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-76415578-T-TGGTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415578
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415583
    reference: chr 17
allele count: 19
allele frequency: 1.587672972792299e-4
allele num: 119672
alternate allele: TGGTGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-48_1100-44dupGGTGC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-48_1147-44dupGGTGC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-48_203-44dupGGTGC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-48_697-44dupGGTGC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-48_*1151-44dupGGTGC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-48_256-44dupGGTGC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-48_1552-44dupGGTGC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-48_671-44dupGGTGC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-48_*1181-44dupGGTGC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-48_*36-44dupGGTGC
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-76415583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415583
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415583
    reference: chr 17
allele count: 5
allele frequency: 4.178505766337958e-5
allele num: 119660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-44C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-44C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-44C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-44C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-44C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-44C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-44C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-44C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-44C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-44C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-76415586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415586
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415586
    reference: chr 17
allele count: 3
allele frequency: 2.50689395838556e-5
allele num: 119670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-41G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-41G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-76415591-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415591
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415591
    reference: chr 17
allele count: 65
allele frequency: 5.430968216302931e-4
allele num: 119684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-36G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-36G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-36G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-36G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-36G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-36G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-36G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-36G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-36G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-36G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14225
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-76415592-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415592
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415592
    reference: chr 17
allele count: 1
allele frequency: 8.355335717389125e-6
allele num: 119684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-35A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-35A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-35A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-35A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-35A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-35A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-35A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-35A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-35A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-35A>C
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-76415593-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415593
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415593
    reference: chr 17
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-34C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-34C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-34C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-34C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-34C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-34C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-34C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-34C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-34C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-34C>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

17-76415600-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415600
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415600
    reference: chr 17
allele count: 1
allele frequency: 8.352962795903706e-6
allele num: 119718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-27C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-27C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-27C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-27C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-27C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-27C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-27C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-27C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-27C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-27C>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19392
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

17-76415602-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415602
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415603
    reference: chr 17
allele count: 1
allele frequency: 8.352404657300837e-6
allele num: 119726
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-23dupT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-23dupT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-23dupT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-23dupT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-23dupT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-23dupT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-23dupT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-23dupT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-23dupT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-23dupT
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4818
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

17-76415603-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415603
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415603
    reference: chr 17
allele count: 1
allele frequency: 8.352265134304423e-6
allele num: 119728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-24T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-24T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-24T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-24T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-24T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-24T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-24T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-24T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-24T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-24T>C
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

17-76415609-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415609
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415609
    reference: chr 17
allele count: 3
allele frequency: 2.505093690504025e-5
allele num: 119756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-18T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-18T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-18T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-18T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-18T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-18T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-18T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-18T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-18T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-18T>C
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-76415612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415612
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415612
    reference: chr 17
allele count: 1
allele frequency: 8.348220994106157e-6
allele num: 119786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-15G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-15G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-76415615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415615
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415615
    reference: chr 17
allele count: 2
allele frequency: 1.669198284064164e-5
allele num: 119818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-12C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19387
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

17-76415618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415618
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415618
    reference: chr 17
allele count: 2
allele frequency: 1.66858554003771e-5
allele num: 119862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1100-9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1181-9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.671-9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.697-9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.256-9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1552-9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.203-9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1151-9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*36-9C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1147-9C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

17-76415629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415629
    reference: chr 17
allele count: 1
allele frequency: 8.330834083108401e-6
allele num: 120036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.258G>A
  hgvsp: ENSP00000467569.1:p.Ala87Thr
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1149G>A
  hgvsp: ENST00000329897.7:c.1149G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.205G>A
  hgvsp: ENSP00000467719.1:p.Ala69Thr
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1102G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.699G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.673G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*38G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1183G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1554G>A
  hgvsp: ENST00000262764.6:c.1554G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1153G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala69Thr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-76415647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415647
    reference: chr 17
allele count: 9
allele frequency: 7.479928857565533e-5
allele num: 120322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.717G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.276G>A
  hgvsp: ENSP00000467569.1:p.Glu93Lys
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1201G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1572G>A
  hgvsp: ENST00000262764.6:c.1572G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.223G>A
  hgvsp: ENSP00000467719.1:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1171G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1120G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.691G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1167G>A
  hgvsp: ENST00000329897.7:c.1167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*56G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7660
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu75Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-76415656-TGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415656
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415653
    reference: chr 17
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*69_*71delGTG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.236_238delGTG
  hgvsp: ENSP00000467719.1:p.Gly79del
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.289_291delGTG
  hgvsp: ENSP00000467569.1:p.Gly97del
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1184_*1186delGTG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1180_1182delGTG
  hgvsp: ENSP00000330039.7:p.Val394del
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1214_*1216delGTG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1133_1135delGTG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1585_1587delGTG
  hgvsp: ENSP00000262764.5:p.Val529del
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.730_732delGTG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.704_706delGTG
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val529del
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: TGTG
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

17-76415662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415662
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415662
    reference: chr 17
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1216G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1182G>A
  hgvsp: ENST00000329897.7:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.291G>A
  hgvsp: ENSP00000467569.1:p.Val98Ile
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.732G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1587G>A
  hgvsp: ENST00000262764.6:c.1587G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*71G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.238G>A
  hgvsp: ENSP00000467719.1:p.Val80Ile
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1186G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.706G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1135G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val80Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-76415673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415673
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415673
    reference: chr 17
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1598C>T
  hgvsp: ENSP00000262764.5:p.Thr533Ile
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.717C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1193C>T
  hgvsp: ENSP00000330039.7:p.Thr398Ile
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.302C>T
  hgvsp: ENST00000586019.1:c.302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.249C>T
  hgvsp: ENST00000586355.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.743C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*82C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1197C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1146C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1227C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr533Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

17-76415677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415677
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415677
    reference: chr 17
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*86C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1201C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1231C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1150C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1197C>T
  hgvsp: ENST00000329897.7:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.253C>T
  hgvsp: ENSP00000467719.1:p.Arg85Ter
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000585521
  gene symbol: PGS1
  hgvsc: ENST00000585521.2:n.721C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1602C>T
  hgvsp: ENST00000262764.6:c.1602C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.306C>T
  hgvsp: ENSP00000467569.1:p.Arg103Ter
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.747C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5632
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg85Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

17-76415678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415678
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415678
    reference: chr 17
allele count: 2
allele frequency: 1.658182300562124e-5
allele num: 120614
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1603G>A
  hgvsp: ENSP00000262764.5:p.Glu535Lys
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1232G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1198G>A
  hgvsp: ENSP00000330039.7:p.Glu400Lys
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1202G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1151G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.307G>A
  hgvsp: ENSP00000467569.1:p.Arg103Gln
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.254G>A
  hgvsp: ENSP00000467719.1:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.748G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*87G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu535Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

17-76415682-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415682
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415682
    reference: chr 17
allele count: 3
allele frequency: 2.48681985476972e-5
allele num: 120636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1236A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1206A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*91A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1607A>G
  hgvsp: ENSP00000262764.5:p.Gln536Arg
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.258A>G
  hgvsp: ENST00000586355.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.752A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.311A>G
  hgvsp: ENST00000586019.1:c.311A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1202A>G
  hgvsp: ENSP00000330039.7:p.Gln401Arg
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1155A>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln536Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-76415685-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415685
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415685
    reference: chr 17
allele count: 2
allele frequency: 1.657550140891762e-5
allele num: 120660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*94C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1239C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1158C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.314C>G
  hgvsp: ENST00000586019.1:c.314C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1209C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.755C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1610C>G
  hgvsp: ENSP00000262764.5:p.Pro537Arg
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1205C>G
  hgvsp: ENSP00000330039.7:p.Pro402Arg
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.261C>G
  hgvsp: ENST00000586355.1:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19378
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro537Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-76415685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415685
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415685
    reference: chr 17
allele count: 5
allele frequency: 4.143875352229405e-5
allele num: 120660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1205C>T
  hgvsp: ENSP00000330039.7:p.Pro402Leu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.314C>T
  hgvsp: ENST00000586019.1:c.314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1239C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1158C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1610C>T
  hgvsp: ENSP00000262764.5:p.Pro537Leu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.261C>T
  hgvsp: ENST00000586355.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*94C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.755C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1209C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro537Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-76415686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415686
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415686
    reference: chr 17
allele count: 3
allele frequency: 2.486242789895909e-5
allele num: 120664
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1611G>A
  hgvsp: ENST00000262764.6:c.1611G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1210G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1159G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.315G>A
  hgvsp: ENSP00000467569.1:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.756G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.262G>A
  hgvsp: ENSP00000467719.1:p.Glu88Lys
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1206G>A
  hgvsp: ENST00000329897.7:c.1206G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1240G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*95G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5634
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu88Lys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

17-76415690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415690
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415690
    reference: chr 17
allele count: 2
allele frequency: 1.657220509761029e-5
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1615C>T
  hgvsp: ENSP00000262764.5:p.Arg539Cys
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.319C>T
  hgvsp: ENSP00000467569.1:p.Ser107Leu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.266C>T
  hgvsp: ENSP00000467719.1:p.Ser89Leu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1214C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1244C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1163C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1210C>T
  hgvsp: ENSP00000330039.7:p.Arg404Cys
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.760C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*99C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg539Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-76415691-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415691
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415691
    reference: chr 17
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.320G>T
  hgvsp: ENST00000586019.1:c.320G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.761G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1164G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*100G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.267G>T
  hgvsp: ENST00000586355.1:c.267G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1211G>T
  hgvsp: ENSP00000330039.7:p.Arg404Leu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1616G>T
  hgvsp: ENSP00000262764.5:p.Arg539Leu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1245G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1215G>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg539Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-76415702-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415702
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415702
    reference: chr 17
allele count: 164
allele frequency: 1.3584480559283e-3
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1226C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1256C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*111C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.278C>T
  hgvsp: ENSP00000467719.1:p.Ala93Val
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1175C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.331C>T
  hgvsp: ENSP00000467569.1:p.Ala111Val
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1222C>T
  hgvsp: ENST00000329897.7:c.1222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.772C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1627C>T
  hgvsp: ENST00000262764.6:c.1627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14288
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 152
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala93Val
num of homozygotes: 2
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-76415705-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415705
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415704
    reference: chr 17
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.778delG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1181delG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1262delG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1633delG
  hgvsp: ENSP00000262764.5:p.Val545Ter
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1228delG
  hgvsp: ENSP00000330039.7:p.Val410Ter
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.284delG
  hgvsp: ENSP00000467719.1:p.Gly95ValfsTer13
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1232delG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.337delG
  hgvsp: ENSP00000467569.1:p.Gly113ValfsTer13
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*117delG
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 10609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val545Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: TG
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-76415722-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415722
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415722
    reference: chr 17
allele count: 2
allele frequency: 1.656891009709381e-5
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.351T>C
  hgvsp: ENSP00000467569.1:p.Ser118Pro
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1276T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1195T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.298T>C
  hgvsp: ENSP00000467719.1:p.Ser100Pro
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1242T>C
  hgvsp: ENST00000329897.7:c.1242T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*131T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1647T>C
  hgvsp: ENST00000262764.6:c.1647T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.792T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1246T>C
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7724
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser100Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

17-76415728-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415728
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415728
    reference: chr 17
allele count: 11
allele frequency: 9.113504556752278e-5
allele num: 120700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1252G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.304G>C
  hgvsp: ENSP00000467719.1:p.Asp102His
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1653G>C
  hgvsp: ENST00000262764.6:c.1653G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.798G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.357G>C
  hgvsp: ENSP00000467569.1:p.Asp120His
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*137G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1282G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1248G>C
  hgvsp: ENST00000329897.7:c.1248G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1201G>C
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp102His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

17-76415733-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415733
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415733
    reference: chr 17
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1253A>G
  hgvsp: ENSP00000330039.7:p.Lys418Arg
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.362A>G
  hgvsp: ENST00000586019.1:c.362A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1206A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.803A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1257A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1287A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1658A>G
  hgvsp: ENSP00000262764.5:p.Lys553Arg
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*142A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.309A>G
  hgvsp: ENST00000586355.1:c.309A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys553Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-76415736-ACTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415736
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415733
    reference: chr 17
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.812_814delTCT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1262_1264delTCT
  hgvsp: ENSP00000330039.7:p.Phe421del
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*151_*153delTCT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.318_320delTCT
  hgvsp: ENSP00000467719.1:p.Leu107del
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1215_1217delTCT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.371_373delTCT
  hgvsp: ENSP00000467569.1:p.Leu125del
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1266_*1268delTCT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1296_*1298delTCT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1667_1669delTCT
  hgvsp: ENSP00000262764.5:p.Phe556del
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe556del
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: ACTT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-76415740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415740
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415740
    reference: chr 17
allele count: 10
allele frequency: 8.286926544683108e-5
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.369C>T
  hgvsp: ENSP00000467569.1:p.Leu124Phe
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1213C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.810C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1264C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1260C>T
  hgvsp: ENST00000329897.7:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.316C>T
  hgvsp: ENSP00000467719.1:p.Leu106Phe
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*149C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1294C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1665C>T
  hgvsp: ENST00000262764.6:c.1665C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu106Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

17-76415741-TTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415741
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415739
    reference: chr 17
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.1263_1264delCT
  hgvsp: ENSP00000330039.7:p.Phe421Leu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.372_373delCT
  hgvsp: ENSP00000467569.1:p.Leu125GlufsTer28
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*152_*153delCT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.1668_1669delCT
  hgvsp: ENSP00000262764.5:p.Phe556Leu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.319_320delCT
  hgvsp: ENSP00000467719.1:p.Leu107GlufsTer28
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1267_*1268delCT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.813_814delCT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1216_1217delCT
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1297_*1298delCT
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe556Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: TTC
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

17-76415754-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415754
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415754
    reference: chr 17
allele count: 2
allele frequency: 1.658319790388379e-5
allele num: 120604
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*8C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1227C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.330C>G
  hgvsp: ENSP00000467719.1:p.Asp110Glu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.824C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*163C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1308C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1278C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.383C>G
  hgvsp: ENSP00000467569.1:p.Asp128Glu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*8C>G
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp128Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

17-76415760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415760
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415760
    reference: chr 17
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1314C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*14C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.830C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+4C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+4C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.336C>T
  hgvsp: ENST00000586355.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+4C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1233C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.389C>T
  hgvsp: ENST00000586019.1:c.389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 8.25e1
  variant carriers: 0
hgvs: c.*10+4C>T
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

17-76415766-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415766
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415766
    reference: chr 17
allele count: 31
allele frequency: 2.572443323264845e-4
allele num: 120508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1320C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.342C>G
  hgvsp: ENST00000586355.1:c.342C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.395C>G
  hgvsp: ENST00000586019.1:c.395C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1239C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+10C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.836C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*20C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+10C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+10C>G
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11158
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu114Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

17-76415766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415766
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415766
    reference: chr 17
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.342C>T
  hgvsp: ENST00000586355.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+10C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1320C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+10C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.395C>T
  hgvsp: ENST00000586019.1:c.395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1239C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.836C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*20C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+10C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5645
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu114Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-76415767-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415767
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415767
    reference: chr 17
allele count: 5
allele frequency: 4.149170995635072e-5
allele num: 120506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*21T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1321T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.837T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.396T>C
  hgvsp: ENSP00000467569.1:p.Ter133GlnextTer35
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1240T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+11T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+11T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.343T>C
  hgvsp: ENSP00000467719.1:p.Ter115GlnextTer35
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+11T>C
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ter115GlnextTer35
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

17-76415770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415770
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415770
    reference: chr 17
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+14C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*24C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1243C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.840C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1324C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+14C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+14C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-76415771-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415771
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415771
    reference: chr 17
allele count: 5
allele frequency: 4.150686523550995e-5
allele num: 120462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.841A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*25A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*2A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1325A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1244A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+15A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+15A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*2A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+15A>G
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-76415775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415775
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415775
    reference: chr 17
allele count: 6
allele frequency: 4.982726547967048e-5
allele num: 120416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+19C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*29C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+19C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1329C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.845C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+19C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1248C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-76415775-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415775
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415773
    reference: chr 17
allele count: 1
allele frequency: 8.304544246611745e-6
allele num: 120416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+23_*165+24delTC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*10_*11delTC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+23_*10+24delTC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*10_*11delTC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1333_*1334delTC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1252_1253delTC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*33_*34delTC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+23_*1280+24delTC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.849_850delTC
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: CCT
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

17-76415776-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415776
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415776
    reference: chr 17
allele count: 3
allele frequency: 2.491404653943893e-5
allele num: 120414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+20C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*30C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*7C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.846C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*7C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1249C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1330C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+20C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+20C>G
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19194
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-76415781-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415781
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415781
    reference: chr 17
allele count: 4
allele frequency: 3.323197580712161e-5
allele num: 120366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.851A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+25A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1254A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+25A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*12A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*12A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*35A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+25A>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1335A>C
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

17-76415785-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415785
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415785
    reference: chr 17
allele count: 3
allele frequency: 2.49409730304945e-5
allele num: 120284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1339C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.855C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+29C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*39C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1258C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+29C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+29C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10856
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7445
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

17-76415786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415786
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415786
    reference: chr 17
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.856G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1259G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+30G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*40G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+30G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+30G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1340G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

17-76415786-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415786
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415786
    reference: chr 17
allele count: 53
allele frequency: 4.40653164388573e-4
allele num: 120276
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+30G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+30G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.856G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1259G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1340G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*40G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+30G>C
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5590
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-76415791-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415791
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415791
    reference: chr 17
allele count: 1
allele frequency: 8.316838270762986e-6
allele num: 120238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+35T>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*45T>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.861T>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1345T>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1264T>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+35T>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*22T>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*22T>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+35T>A
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-76415791-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415791
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415790
    reference: chr 17
allele count: 1
allele frequency: 8.316838270762986e-6
allele num: 120238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*25delC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*25delC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1267delC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+38delC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+38delC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*48delC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+38delC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1348delC
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.864delC
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: TC
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-76415793-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415793
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415793
    reference: chr 17
allele count: 1
allele frequency: 8.317806760713336e-6
allele num: 120224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1347C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.863C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+37C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+37C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*24C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*47C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1266C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*24C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+37C>A
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-76415793-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415793
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415793
    reference: chr 17
allele count: 2
allele frequency: 1.663561352142667e-5
allele num: 120224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+37C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+37C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.863C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1266C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*47C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1347C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+37C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13871
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

17-76415794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415794
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415794
    reference: chr 17
allele count: 2
allele frequency: 1.664170411050091e-5
allele num: 120180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.864C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+38C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1267C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1348C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*48C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+38C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+38C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
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: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-76415795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415795
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415795
    reference: chr 17
allele count: 7
allele frequency: 5.824208739641229e-5
allele num: 120188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.865G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+39G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+39G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1349G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1268G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*49G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+39G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  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: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

17-76415795-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415795
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415795
    reference: chr 17
allele count: 3
allele frequency: 2.496089459846241e-5
allele num: 120188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.865G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+39G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*26G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*26G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*49G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+39G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+39G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1349G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1268G>C
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum

17-76415813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76415813
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76415813
    reference: chr 17
allele count: 11
allele frequency: 9.178598845165382e-5
allele num: 119844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*1280+57C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467569
  ensembl transcript: ENST00000586019
  gene symbol: PGS1
  hgvsc: ENST00000586019.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467719
  ensembl transcript: ENST00000586355
  gene symbol: PGS1
  hgvsc: ENST00000586355.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.883C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.*10+57C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.*60+7C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*1360+7C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.*165+57C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.1279+7C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9199
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9547
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10848
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
hgvs: c.*60+7C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

GenotypeQuality
all individuals: 1296
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3094
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9225
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 290
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.229e0

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.55e-1

DP
type: SiteQuality
SIO_000300: 1.970719e6

MQ
type: SiteQuality
SIO_000300: 6.035e1

VQSLOD
type: SiteQuality
SIO_000300: -3.367e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.287e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

QD
type: SiteQuality
SIO_000300: 3.226e1

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.944175e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

MQ
type: SiteQuality
SIO_000300: 5.992e1

GenotypeQuality
all individuals: 174
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 67

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601005722212589e-4
allele num: 11534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507340749449821e-5
allele num: 66342
num of homozygotes: 0

African
type: Population
allele count: 64
allele frequency: 6.619776582540339e-3
allele num: 9668
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.324e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.413e0

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 1.935321e6

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1398
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.049e1

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.435e0

DP
type: SiteQuality
SIO_000300: 1.866088e6

QD
type: SiteQuality
SIO_000300: 2.331e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
all individuals: 4175
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 7.5e0
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GenotypeQuality
all individuals: 5122
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variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 17056
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 592
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 514
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GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.75e1
variant carriers: 14

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.374497779657433e-3
allele num: 9458
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.901548869503294e-5
allele num: 11234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

QD
type: SiteQuality
SIO_000300: 1.304e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.881e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

FS
type: SiteQuality
SIO_000300: 1.583e0

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

DP
type: SiteQuality
SIO_000300: 1.672181e6

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
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variant carriers: 0

GenotypeQuality
all individuals: 145
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GenotypeQuality
all individuals: 5176
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 233
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GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.249218847644044e-5
allele num: 16002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.163255622686869e-5
allele num: 63226
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5810
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.261e1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.645151e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.317e0

FS
type: SiteQuality
SIO_000300: 1.784e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 82
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4988
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.112842198976185e-4
allele num: 8986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58736
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.736e0

QD
type: SiteQuality
SIO_000300: 6.18e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

VQSLOD
type: SiteQuality
SIO_000300: -2.275e0

MQRankSum
type: SiteQuality
SIO_000300: -1.129e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

DP
type: SiteQuality
SIO_000300: 1.611942e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.99e-1

GenotypeQuality
all individuals: 940
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 1966
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16399
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5429
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.350065801842452e-5
allele num: 42552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5780
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.87e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.562402e6

MQ
type: SiteQuality
SIO_000300: 6.011e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.797e1

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
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GenotypeQuality
all individuals: 1104
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GenotypeQuality
all individuals: 299
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GenotypeQuality
all individuals: 87
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GenotypeQuality
all individuals: 1967
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GenotypeQuality
all individuals: 3709
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GenotypeQuality
all individuals: 16526
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GenotypeQuality
all individuals: 4344
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variant carriers: 0

GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 227
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variant carriers: 2

GenotypeQuality
all individuals: 285
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GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 16087
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variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 5423
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.589714924538849e-4
allele num: 3578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.83e-2

FS
type: SiteQuality
SIO_000300: 2.393e0

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

DP
type: SiteQuality
SIO_000300: 1.561351e6

GenotypeQuality
all individuals: 17643
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.51123595505618e-5
allele num: 28480
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.122e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.142e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.874e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.108e0

QD
type: SiteQuality
SIO_000300: 1.008e1

DP
type: SiteQuality
SIO_000300: 1.533455e6

GenotypeQuality
all individuals: 3937
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 7.514277126540427e-4
allele num: 6654
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25200
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

DP
type: SiteQuality
SIO_000300: 1.498359e6

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.054e0

FS
type: SiteQuality
SIO_000300: 2.074e0

QD
type: SiteQuality
SIO_000300: 1.27e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 2852
bin: 3.75e1
variant carriers: 2354

GenotypeQuality
all individuals: 2785
bin: 7.25e1
variant carriers: 2670

GenotypeQuality
all individuals: 702
bin: 2.5e0
variant carriers: 134

GenotypeQuality
all individuals: 2908
bin: 4.25e1
variant carriers: 2668

GenotypeQuality
all individuals: 3044
bin: 6.25e1
variant carriers: 2020

GenotypeQuality
all individuals: 3423
bin: 6.75e1
variant carriers: 3024

GenotypeQuality
all individuals: 3598
bin: 5.25e1
variant carriers: 3462

GenotypeQuality
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bin: 3.25e1
variant carriers: 1364

GenotypeQuality
all individuals: 1459
bin: 2.25e1
variant carriers: 906

GenotypeQuality
all individuals: 2471
bin: 4.75e1
variant carriers: 2158

GenotypeQuality
all individuals: 554
bin: 1.75e1
variant carriers: 474

GenotypeQuality
all individuals: 1571
bin: 2.75e1
variant carriers: 1246

GenotypeQuality
all individuals: 1988
bin: 8.25e1
variant carriers: 1887

GenotypeQuality
all individuals: 1641
bin: 8.75e1
variant carriers: 1596

GenotypeQuality
all individuals: 1009
bin: 9.25e1
variant carriers: 963

GenotypeQuality
all individuals: 412
bin: 1.25e1
variant carriers: 341

GenotypeQuality
all individuals: 22849
bin: 9.75e1
variant carriers: 22686

East Asian
type: Population
allele count: 7518
allele frequency: 9.276900296150049e-1
allele num: 8104
num of homozygotes: 3487

African
type: Population
allele count: 3894
allele frequency: 4.355704697986577e-1
allele num: 8940
num of homozygotes: 837

South Asian
type: Population
allele count: 11789
allele frequency: 7.323269971425022e-1
allele num: 16098
num of homozygotes: 4327

European (Finnish)
type: Population
allele count: 4939
allele frequency: 8.376865671641791e-1
allele num: 5896
num of homozygotes: 2063

Latino
type: Population
allele count: 9061
allele frequency: 8.320477502295685e-1
allele num: 10890
num of homozygotes: 3769

Other
type: Population
allele count: 585
allele frequency: 7.048192771084337e-1
allele num: 830
num of homozygotes: 214

European (Non-Finnish)
type: Population
allele count: 45145
allele frequency: 7.30525259717143e-1
allele num: 61798
num of homozygotes: 16489

MQ
type: SiteQuality
SIO_000300: 6.045e1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.346e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.820000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 1.293145e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

GenotypeQuality
all individuals: 7569
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3979
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 2577
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variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
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GenotypeQuality
all individuals: 3702
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variant carriers: 0

GenotypeQuality
all individuals: 4840
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19454
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variant carriers: 2

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 5634
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variant carriers: 0

GenotypeQuality
all individuals: 11390
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
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

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.305148e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

FS
type: SiteQuality
SIO_000300: 1.906e0

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.301e0

QD
type: SiteQuality
SIO_000300: 1.265e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11415
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5636
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variant carriers: 0

GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 290
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 114
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19462
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variant carriers: 19

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 19
allele frequency: 2.217036172695449e-3
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.255e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.087e0

MQRankSum
type: SiteQuality
SIO_000300: -4.328e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

DP
type: SiteQuality
SIO_000300: 2.305126e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeQuality
all individuals: 7569
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 2566
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GenotypeQuality
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GenotypeQuality
all individuals: 241
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GenotypeQuality
all individuals: 4816
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GenotypeQuality
all individuals: 293
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variant carriers: 0

GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 3686
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 5611
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variant carriers: 0

GenotypeQuality
all individuals: 11546
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.835667600373483e-4
allele num: 8568
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.304e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.704e0

DP
type: SiteQuality
SIO_000300: 2.305024e6

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.25e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.537205081669691e-4
allele num: 6612
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

FS
type: SiteQuality
SIO_000300: 9.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.359e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 259
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GenotypeQuality
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GenotypeQuality
all individuals: 42
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GenotypeQuality
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GenotypeQuality
all individuals: 367
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 65

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511852926947267e-5
allele num: 66144
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

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

East Asian
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allele count: 61
allele frequency: 7.117852975495916e-3
allele num: 8570
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.826150474799123e-4
allele num: 16428
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 2.306928e6

VQSLOD
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SIO_000300: 5.88e0

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.145e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511944360447535e-5
allele num: 66140
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

MQ
type: SiteQuality
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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SIO_000300: 9.07e-1

ClippingRankSum
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SIO_000300: 7.58e-1

ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
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SIO_000300: 2.304216e6

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66146
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 1.4138e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 16434
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

VQSLOD
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.47e1

DP
type: SiteQuality
SIO_000300: 2.305068e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
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: 9552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511258878645912e-5
allele num: 66170
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.026e1

DP
type: SiteQuality
SIO_000300: 2.30534e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.18e-1

FS
type: SiteQuality
SIO_000300: 1.225e0

MQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.249e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511258878645912e-5
allele num: 66170
num of homozygotes: 0

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

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

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

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 888
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South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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DP
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BaseQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 3.138731952291275e-4
allele num: 9558
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South Asian
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European (Finnish)
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allele num: 6612
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QD
type: SiteQuality
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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VQSLOD
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MQ
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50993537476596e-5
allele num: 66228
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

FS
type: SiteQuality
SIO_000300: 7.044e0

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.971e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.307045e6

QD
type: SiteQuality
SIO_000300: 1.231e1

GenotypeQuality
all individuals: 3976
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 216
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.088991017338625e-4
allele num: 9574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQRankSum
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SIO_000300: 7.48e-1

BaseQRankSum
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SIO_000300: -3.528e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 4.839e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.312e1

DP
type: SiteQuality
SIO_000300: 2.307562e6

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4819
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.036e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 1.083e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.485e0

VQSLOD
type: SiteQuality
SIO_000300: -1.579e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.061e0

DP
type: SiteQuality
SIO_000300: 2.309237e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 9
allele frequency: 1.046511627906977e-3
allele num: 8600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.144e0

QD
type: SiteQuality
SIO_000300: 1.169e1

DP
type: SiteQuality
SIO_000300: 2.312826e6

MQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.352e0

GenotypeQuality
all individuals: 188
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
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: 896
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.312607e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 3.959e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.383e1

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.23e-1

DP
type: SiteQuality
SIO_000300: 2.313216e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e0

QD
type: SiteQuality
SIO_000300: 1.138e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 4.352e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 11558
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.024170421958214e-4
allele num: 9764
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.159e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

FS
type: SiteQuality
SIO_000300: 8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.962e0

DP
type: SiteQuality
SIO_000300: 2.314232e6

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3101e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 2.314397e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9772
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele num: 16496
num of homozygotes: 0

FS
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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SIO_000300: -5.82e-1

MQ
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BaseQRankSum
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SIO_000300: -7.7e-2

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.499640028797696e-5
allele num: 66672
num of homozygotes: 0

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

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

Other
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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MQ
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FS
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8616
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
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African
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allele count: 0
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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QD
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BaseQRankSum
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SIO_000300: -1.76e-1

ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499100179964007e-5
allele num: 66680
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9786
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.315562e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 2.042900919305414e-4
allele num: 9790
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
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BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

VQSLOD
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ReadPosRankSum
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SIO_000300: 1.59e0

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

Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
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South Asian
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11564
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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FS
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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allele frequency: 1.728137323126885e-2
allele num: 8622
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Latino
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European (Finnish)
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African
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allele frequency: 8.154943934760449e-4
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Other
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.366e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.222e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.441e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

MQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 6.3e-1

BaseQRankSum
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SIO_000300: 3.62e0

FS
type: SiteQuality
SIO_000300: 1.067e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 2.310963e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.276990944973299e-3
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 5.82e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

DP
type: SiteQuality
SIO_000300: 2.311606e6

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.998e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.459e0

VQSLOD
type: SiteQuality
SIO_000300: -8.569e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 3.418e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.374e0

DP
type: SiteQuality
SIO_000300: 2.310114e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 3.724e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 7.781e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.57e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.19e0

DP
type: SiteQuality
SIO_000300: 2.30982e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.327e0

QD
type: SiteQuality
SIO_000300: 9.24e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

ClippingRankSum
type: SiteQuality
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QD
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DP
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BaseQRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.143e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.052e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 2.309331e6

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
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allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 2.039567611666327e-4
allele num: 9806
num of homozygotes: 0

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

South Asian
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

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

InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 9.17e0

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 2.306618e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 9
allele frequency: 1.352488578985333e-4
allele num: 66544
num of homozygotes: 0

South Asian
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allele frequency: 1.272264631043257e-3
allele num: 16506
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.305501e6

MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.4e-3

BaseQRankSum
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SIO_000300: -2.649e0

ReadPosRankSum
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SIO_000300: 6.41e-1

ClippingRankSum
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SIO_000300: -5.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.305501e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.514051275885907e-5
allele num: 66542
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

DP
type: SiteQuality
SIO_000300: 2.304411e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.468e1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.858e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.302363e6

VQSLOD
type: SiteQuality
SIO_000300: -1.749e0

MQRankSum
type: SiteQuality
SIO_000300: 2.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.587e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.22e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

South Asian
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allele frequency: 3.029568589432865e-4
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

Other
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 2.302295e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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QD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 4
allele frequency: 2.423948612289419e-4
allele num: 16502
num of homozygotes: 1

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

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

European (Non-Finnish)
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allele count: 2
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allele num: 66478
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Latino
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East Asian
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African
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 1.022494887525562e-4
allele num: 9780
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

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

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

South Asian
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QD
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.008514094888535e-5
allele num: 66478
num of homozygotes: 0

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

South Asian
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African
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QD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
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ClippingRankSum
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SIO_000300: 2.27e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9776
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

South Asian
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allele frequency: 2.424830261881668e-4
allele num: 16496
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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VQSLOD
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FS
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66394
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 2.59920291110726e-4
allele num: 11542
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 8.0e-4

BaseQRankSum
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DP
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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African
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South Asian
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FS
type: SiteQuality
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 890
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 4.81261519557649e-3
allele num: 9766
num of homozygotes: 0

Latino
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allele frequency: 2.59920291110726e-4
allele num: 11542
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.012592637223595e-5
allele num: 66388
num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66354
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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East Asian
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Latino
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allele frequency: 0.0e0
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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African
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ClippingRankSum
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VQSLOD
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DP
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FS
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MQ
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66344
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African
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South Asian
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Latino
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East Asian
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Other
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele frequency: 3.014590618593995e-5
allele num: 66344
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Latino
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European (Finnish)
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African
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Other
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ClippingRankSum
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DP
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19126
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50779530170984e-5
allele num: 66322
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: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 6.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.861e0

DP
type: SiteQuality
SIO_000300: 2.276919e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

QD
type: SiteQuality
SIO_000300: 2.08e1

GenotypeQuality
all individuals: 302
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3985
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4799
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19118
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.568876778686043e-4
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.765e0

QD
type: SiteQuality
SIO_000300: 1.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 2.27544e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 7250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5537
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11206
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19118
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 407
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3985
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4799
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.765e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

DP
type: SiteQuality
SIO_000300: 2.27544e6

QD
type: SiteQuality
SIO_000300: 1.314e1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

GenotypeQuality
all individuals: 1377
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3024
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19094
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 4570
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7802
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2040
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4975
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.737317581653926e-4
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.209701808504204e-4
allele num: 66132
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027326895418122e-4
allele num: 9734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 16418
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

DP
type: SiteQuality
SIO_000300: 2.210092e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.521e0

FS
type: SiteQuality
SIO_000300: 3.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1