17-76395635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76395635
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76395635
    reference: chr 17
allele count: 4
allele frequency: 3.324191805867199e-5
allele num: 120330
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.623+17G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.623+17G>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.249+17G>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.*330+17G>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.*358+17G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.697+17G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.651+17G>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.701+17G>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.296+17G>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.480+1203G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15854
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-76395646-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76395646
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76395646
    reference: chr 17
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.651+28T>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.623+28T>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.296+28T>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.623+28T>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.701+28T>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.249+28T>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.*358+28T>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.480+1214T>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.*330+28T>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.697+28T>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12828
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-76395647-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76395647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76395647
    reference: chr 17
allele count: 1
allele frequency: 8.319882856049386e-6
allele num: 120194
alternate allele: T
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.*330+29G>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.296+29G>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.701+29G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.651+29G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.623+29G>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.623+29G>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.480+1215G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.697+29G>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.249+29G>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.*358+29G>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

17-76395649-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76395649
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76395649
    reference: chr 17
allele count: 2
allele frequency: 1.664308895731048e-5
allele num: 120170
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.*358+31C>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.249+31C>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.*330+31C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.651+31C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.697+31C>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.296+31C>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.480+1217C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.623+31C>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.623+31C>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.701+31C>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

17-76395649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76395649
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76395649
    reference: chr 17
allele count: 3
allele frequency: 2.496463343596572e-5
allele num: 120170
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.701+31C>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.296+31C>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.249+31C>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.480+1217C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.623+31C>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.*358+31C>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.*330+31C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.651+31C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.697+31C>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.623+31C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-76395650-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76395650
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76395650
    reference: chr 17
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: G
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.623+32C>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.*330+32C>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.480+1218C>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.249+32C>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.*358+32C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.623+32C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.651+32C>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.296+32C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.697+32C>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.701+32C>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7565
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

17-76395652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76395652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76395652
    reference: chr 17
allele count: 1
allele frequency: 8.325840077263796e-6
allele num: 120108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.651+34C>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.296+34C>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.623+34C>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.249+34C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.697+34C>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.*330+34C>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.701+34C>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.*358+34C>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.480+1220C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.623+34C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5079
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-76395655-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76395655
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76395655
    reference: chr 17
allele count: 1
allele frequency: 8.331111703545721e-6
allele num: 120032
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.249+37G>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.296+37G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.623+37G>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.*358+37G>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.480+1223G>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.623+37G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.651+37G>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.*330+37G>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.701+37G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.697+37G>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-76395658-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76395658
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76395658
    reference: chr 17
allele count: 1
allele frequency: 8.339170752860335e-6
allele num: 119916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.651+40C>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.249+40C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.623+40C>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.623+40C>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.296+40C>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.480+1226C>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.*358+40C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.697+40C>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.*330+40C>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.701+40C>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-76395664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76395664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76395664
    reference: chr 17
allele count: 1
allele frequency: 8.348917980229763e-6
allele num: 119776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.697+46G>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.296+46G>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.623+46G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.623+46G>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.249+46G>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.701+46G>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.480+1232G>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.*330+46G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.651+46G>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.*358+46G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

17-76396711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396711
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396711
    reference: chr 17
allele count: 2
allele frequency: 1.674144512154289e-5
allele num: 119464
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.702-47C>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.*331-47C>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.624-47C>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.*359-105C>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.250-47C>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.480+2279C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.698-47C>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.297-47C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.624-47C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-84C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27843
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-76396712-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396712
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396712
    reference: chr 17
allele count: 1
allele frequency: 8.360924383799873e-6
allele num: 119604
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.297-46A>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.702-46A>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.*331-46A>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.480+2280A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.624-46A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-83A>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.*359-104A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.698-46A>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.250-46A>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.624-46A>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

17-76396716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396716
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396716
    reference: chr 17
allele count: 2
allele frequency: 1.672156915204923e-5
allele num: 119606
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.624-42C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.698-42C>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.480+2284C>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.*331-42C>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.*359-100C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.624-42C>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.250-42C>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.702-42C>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.297-42C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-79C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-76396730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396730
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396730
    reference: chr 17
allele count: 1
allele frequency: 8.342927700188551e-6
allele num: 119862
alternate allele: C
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.480+2298T>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.*359-86T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.624-28T>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.624-28T>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.250-28T>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.297-28T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.698-28T>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.702-28T>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.*331-28T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-65T>C
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

17-76396731-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396731
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396731
    reference: chr 17
allele count: 2
allele frequency: 1.667889785842951e-5
allele num: 119912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-64C>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.480+2299C>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.297-27C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.624-27C>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.250-27C>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.624-27C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.698-27C>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.*359-85C>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.702-27C>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.*331-27C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

17-76396734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396734
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396734
    reference: chr 17
allele count: 2
allele frequency: 1.667278001934042e-5
allele num: 119956
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.702-24C>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.*359-82C>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.*331-24C>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.480+2302C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.698-24C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.624-24C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-61C>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.624-24C>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.250-24C>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.297-24C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

17-76396736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396736
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396736
    reference: chr 17
allele count: 1
allele frequency: 8.332500083325001e-6
allele num: 120012
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.*359-80C>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.*331-22C>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.250-22C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.624-22C>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.480+2304C>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.297-22C>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.702-22C>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.624-22C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.698-22C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-59C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-76396746-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396746
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396746
    reference: chr 17
allele count: 43
allele frequency: 3.575526766559678e-4
allele num: 120262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-49C>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.297-12C>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: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.250-12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.624-12C>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.*331-12C>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.624-12C>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.*359-70C>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.480+2314C>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.702-12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.698-12C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/17-76396748-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396748
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396748
    reference: chr 17
allele count: 2
allele frequency: 1.662482751741451e-5
allele num: 120302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.698-10C>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.250-10C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.624-10C>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.480+2316C>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.*359-68C>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.624-10C>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.*331-10C>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.297-10C>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.702-10C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-47C>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

17-76396758-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396758
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396758
    reference: chr 17
allele count: 2
allele frequency: 1.660522732556209e-5
allele num: 120444
alternate allele: C
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.*331T>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.*359-58T>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.480+2326T>C
  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.702T>C
  hgvsp: ENST00000262764.6:c.702T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.624T>C
  hgvsp: ENST00000589689.1:c.624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_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.624T>C
  hgvsp: ENST00000589426.1:c.624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-37T>C
  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.297T>C
  hgvsp: ENST00000329897.7:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.698T>C
  hgvsp: ENST00000592043.1:c.698T>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
  consequence: splice_region_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.250T>C
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.702T>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

17-76396768-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396768
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396768
    reference: chr 17
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.712A>G
  hgvsp: ENSP00000262764.5:p.Ser238Gly
  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.480+2336A>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.260A>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.*359-48A>G
  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.307A>G
  hgvsp: ENSP00000330039.7:p.Ser103Gly
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.708A>G
  hgvsp: ENSP00000466219.1:p.Ser237Gly
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.634A>G
  hgvsp: ENSP00000465908.1:p.Ser212Gly
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-27A>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.*341A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.634A>G
  hgvsp: ENSP00000468431.1:p.Ser212Gly
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser238Gly
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: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

17-76396773-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396773
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396773
    reference: chr 17
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: G
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.265C>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.717C>G
  hgvsp: ENSP00000262764.5:p.Asp239Glu
  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.*346C>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.480+2341C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-22C>G
  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.312C>G
  hgvsp: ENSP00000330039.7:p.Asp104Glu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.713C>G
  hgvsp: ENSP00000466219.1:p.Asp238Glu
  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.*359-43C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.639C>G
  hgvsp: ENSP00000468431.1:p.Asp213Glu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.639C>G
  hgvsp: ENSP00000465908.1:p.Asp213Glu
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp239Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

17-76396773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396773
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396773
    reference: chr 17
allele count: 2
allele frequency: 1.658704883227176e-5
allele num: 120576
alternate allele: T
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.265C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.639C>T
  hgvsp: ENST00000589689.1:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.713C>T
  hgvsp: ENST00000592043.1:c.713C>T(p.%3D)
  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.717C>T
  hgvsp: ENST00000262764.6:c.717C>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.*359-43C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.639C>T
  hgvsp: ENST00000589426.1:c.639C>T(p.%3D)
  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.312C>T
  hgvsp: ENST00000329897.7:c.312C>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.*346C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-22C>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.480+2341C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp239Asp
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-76396779-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396779
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396779
    reference: chr 17
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.723C>A
  hgvsp: ENSP00000262764.5:p.Tyr241Ter
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.719C>A
  hgvsp: ENSP00000466219.1:p.Tyr240Ter
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-16C>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.271C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.645C>A
  hgvsp: ENSP00000468431.1:p.Tyr215Ter
  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.*352C>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.*359-37C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.318C>A
  hgvsp: ENSP00000330039.7:p.Tyr106Ter
  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.480+2347C>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.645C>A
  hgvsp: ENSP00000465908.1:p.Tyr215Ter
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr241Ter
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-76396779-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396779
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396778
    reference: chr 17
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-14delT
  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.480+2349delT
  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.*359-35delT
  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.725delT
  hgvsp: ENSP00000262764.5:p.Phe242SerfsTer69
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.647delT
  hgvsp: ENSP00000468431.1:p.Phe216SerfsTer69
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.721delT
  hgvsp: ENSP00000466219.1:p.Phe241SerfsTer69
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.647delT
  hgvsp: ENSP00000465908.1:p.Phe216SerfsTer69
  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.320delT
  hgvsp: ENSP00000330039.7:p.Phe107SerfsTer69
  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.*354delT
  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.273delT
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe242SerfsTer69
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: CT
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-76396785-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396785
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396785
    reference: chr 17
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
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.*359-31C>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.480+2353C>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.324C>T
  hgvsp: ENST00000329897.7:c.324C>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.*358C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.651C>T
  hgvsp: ENST00000589426.1:c.651C>T(p.%3D)
  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.729C>T
  hgvsp: ENST00000262764.6:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.725C>T
  hgvsp: ENST00000592043.1:c.725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-10C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.651C>T
  hgvsp: ENST00000589689.1:c.651C>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.277C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr243Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

17-76396787-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396787
    reference: chr 17
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.653A>G
  hgvsp: ENSP00000465908.1:p.Asn218Ser
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-8A>G
  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.326A>G
  hgvsp: ENSP00000330039.7:p.Asn109Ser
  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.731A>G
  hgvsp: ENSP00000262764.5:p.Asn244Ser
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.727A>G
  hgvsp: ENSP00000466219.1:p.Asn243Ser
  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.279A>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.480+2355A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.653A>G
  hgvsp: ENSP00000468431.1:p.Asn218Ser
  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.*360A>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.*359-29A>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn244Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-76396789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396789
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396789
    reference: chr 17
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
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.328C>T
  hgvsp: ENSP00000330039.7:p.Arg110Cys
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.729C>T
  hgvsp: ENSP00000466219.1:p.Arg244Cys
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.655C>T
  hgvsp: ENSP00000468431.1:p.Arg219Cys
  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.281C>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.*359-27C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.655C>T
  hgvsp: ENSP00000465908.1:p.Arg219Cys
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-6C>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.733C>T
  hgvsp: ENSP00000262764.5:p.Arg245Cys
  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.480+2357C>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.*362C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg245Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

17-76396790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396790
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396790
    reference: chr 17
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.656G>A
  hgvsp: ENSP00000468431.1:p.Arg219His
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.730G>A
  hgvsp: ENSP00000466219.1:p.Arg244His
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.656G>A
  hgvsp: ENSP00000465908.1:p.Arg219His
  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.*363G>A
  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.734G>A
  hgvsp: ENSP00000262764.5:p.Arg245His
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-5G>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.*359-26G>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.282G>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.329G>A
  hgvsp: ENSP00000330039.7:p.Arg110His
  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.480+2358G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg245His
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-76396791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396791
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396791
    reference: chr 17
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.652-4C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.657C>T
  hgvsp: ENST00000589426.1:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.731C>T
  hgvsp: ENST00000592043.1:c.731C>T(p.%3D)
  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.480+2359C>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.*364C>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.*359-25C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.657C>T
  hgvsp: ENST00000589689.1:c.657C>T(p.%3D)
  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.735C>T
  hgvsp: ENST00000262764.6:c.735C>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.283C>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.330C>T
  hgvsp: ENST00000329897.7:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: c.652-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

17-76396799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396799
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396799
    reference: chr 17
allele count: 2
allele frequency: 1.658044833532299e-5
allele num: 120624
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.480+2367G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.656G>A
  hgvsp: ENSP00000465266.1:p.Ala220Thr
  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.291G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.665G>A
  hgvsp: ENSP00000468431.1:p.Arg222His
  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.*372G>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.*359-17G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.665G>A
  hgvsp: ENSP00000465908.1:p.Arg222His
  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.743G>A
  hgvsp: ENSP00000262764.5:p.Arg248His
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.739G>A
  hgvsp: ENSP00000466219.1:p.Arg247His
  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.338G>A
  hgvsp: ENSP00000330039.7:p.Arg113His
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg248His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS

17-76396803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396803
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396803
    reference: chr 17
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.660C>T
  hgvsp: ENSP00000465266.1:p.Thr221Met
  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.*376C>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.295C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.669C>T
  hgvsp: ENST00000589426.1:c.669C>T(p.%3D)
  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.342C>T
  hgvsp: ENST00000329897.7:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.743C>T
  hgvsp: ENST00000592043.1:c.743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.669C>T
  hgvsp: ENST00000589689.1:c.669C>T(p.%3D)
  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.747C>T
  hgvsp: ENST00000262764.6:c.747C>T(p.%3D)
  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.480+2371C>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.*359-13C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr221Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ

17-76396806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396806
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396806
    reference: chr 17
allele count: 4
allele frequency: 3.315430011272462e-5
allele num: 120648
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.750G>A
  hgvsp: ENST00000262764.6:c.750G>A(p.%3D)
  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.480+2374G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.746G>A
  hgvsp: ENST00000592043.1:c.746G>A(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.*359-10G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.672G>A
  hgvsp: ENST00000589689.1:c.672G>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.*379G>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.298G>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.345G>A
  hgvsp: ENST00000329897.7:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.672G>A
  hgvsp: ENST00000589426.1:c.672G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.663G>A
  hgvsp: ENSP00000465266.1:p.Cys222Tyr
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys222Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

17-76396809-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396809
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396809
    reference: chr 17
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
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.348C>G
  hgvsp: ENSP00000330039.7:p.Phe116Leu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.666C>G
  hgvsp: ENSP00000465266.1:p.Ser223Cys
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.675C>G
  hgvsp: ENSP00000468431.1:p.Phe225Leu
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.675C>G
  hgvsp: ENSP00000465908.1:p.Phe225Leu
  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.*359-7C>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.749C>G
  hgvsp: ENSP00000466219.1:p.Phe250Leu
  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.480+2377C>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.*382C>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.753C>G
  hgvsp: ENSP00000262764.5:p.Phe251Leu
  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.301C>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe251Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

17-76396818-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396816
    reference: chr 17
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.761_762delTG
  hgvsp: ENSP00000466219.1:p.Ala255GlyfsTer49
  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.360_361delTG
  hgvsp: ENSP00000330039.7:p.Ala121GlyfsTer49
  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.765_766delTG
  hgvsp: ENSP00000262764.5:p.Ala256GlyfsTer49
  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.*394_*395delTG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.678_679delTG
  hgvsp: ENSP00000465266.1:p.Val227AlafsTer?
  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.480+2389_480+2390delTG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.687_688delTG
  hgvsp: ENSP00000465908.1:p.Ala230GlyfsTer49
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.687_688delTG
  hgvsp: ENSP00000468431.1:p.Ala230GlyfsTer49
  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.*364_*365delTG
  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.313_314delTG
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala256GlyfsTer49
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: CTG
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

17-76396819-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396819
    reference: chr 17
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: A
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.311T>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.759T>A
  hgvsp: ENSP00000466219.1:p.Cys254Ser
  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.358T>A
  hgvsp: ENSP00000330039.7:p.Cys120Ser
  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.*362T>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.*392T>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.685T>A
  hgvsp: ENSP00000468431.1:p.Cys229Ser
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.676T>A
  hgvsp: ENST00000587356.1:c.676T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.685T>A
  hgvsp: ENSP00000465908.1:p.Cys229Ser
  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.763T>A
  hgvsp: ENSP00000262764.5:p.Cys255Ser
  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.480+2387T>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys255Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-76396823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396823
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396823
    reference: chr 17
allele count: 3
allele frequency: 2.487026014292109e-5
allele num: 120626
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.*366C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.689C>T
  hgvsp: ENSP00000468431.1:p.Ala230Val
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.763C>T
  hgvsp: ENSP00000466219.1:p.Ala255Val
  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.*396C>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.480+2391C>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.767C>T
  hgvsp: ENSP00000262764.5:p.Ala256Val
  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.315C>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.362C>T
  hgvsp: ENSP00000330039.7:p.Ala121Val
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.689C>T
  hgvsp: ENSP00000465908.1:p.Ala230Val
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.680C>T
  hgvsp: ENSP00000465266.1:p.Arg228Trp
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala256Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-76396824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396824
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396824
    reference: chr 17
allele count: 3
allele frequency: 2.487108487672232e-5
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.690G>A
  hgvsp: ENST00000589689.1:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.690G>A
  hgvsp: ENST00000589426.1:c.690G>A(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.316G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.764G>A
  hgvsp: ENST00000592043.1:c.764G>A(p.%3D)
  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.768G>A
  hgvsp: ENST00000262764.6:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.681G>A
  hgvsp: ENSP00000465266.1:p.Arg228Gln
  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.363G>A
  hgvsp: ENST00000329897.7:c.363G>A(p.%3D)
  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.480+2392G>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.*397G>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: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*367G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7980
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg228Gln
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-76396832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396832
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396832
    reference: chr 17
allele count: 4
allele frequency: 3.316364601124247e-5
allele num: 120614
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.*405C>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.371C>T
  hgvsp: ENSP00000330039.7:p.Ala124Val
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.698C>T
  hgvsp: ENSP00000468431.1:p.Ala233Val
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.689C>T
  hgvsp: ENSP00000465266.1:p.Pro231Ser
  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.324C>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.776C>T
  hgvsp: ENSP00000262764.5:p.Ala259Val
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.772C>T
  hgvsp: ENSP00000466219.1:p.Ala258Val
  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.480+2400C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.698C>T
  hgvsp: ENSP00000465908.1:p.Ala233Val
  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.*375C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala259Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

17-76396844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396844
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396844
    reference: chr 17
allele count: 5
allele frequency: 4.146487096132157e-5
allele num: 120584
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.383C>T
  hgvsp: ENSP00000330039.7:p.Thr128Met
  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.788C>T
  hgvsp: ENSP00000262764.5:p.Thr263Met
  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.336C>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.*387C>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.*417C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.710C>T
  hgvsp: ENSP00000468431.1:p.Thr237Met
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.784C>T
  hgvsp: ENSP00000466219.1:p.Thr262Met
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.710C>T
  hgvsp: ENSP00000465908.1:p.Thr237Met
  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.480+2412C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.701C>T
  hgvsp: ENSP00000465266.1:p.Arg235Trp
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr263Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

17-76396845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396845
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396845
    reference: chr 17
allele count: 58
allele frequency: 4.810483536534793e-4
allele num: 120570
alternate allele: A
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.*388G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.785G>A
  hgvsp: ENST00000592043.1:c.785G>A(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.337G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.702G>A
  hgvsp: ENSP00000465266.1:p.Arg235Gln
  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.*418G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.711G>A
  hgvsp: ENST00000589689.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.711G>A
  hgvsp: ENST00000589426.1:c.711G>A(p.%3D)
  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.480+2413G>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.789G>A
  hgvsp: ENST00000262764.6:c.789G>A(p.%3D)
  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.384G>A
  hgvsp: ENST00000329897.7:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 7969
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg235Gln
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

17-76396857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396857
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396857
    reference: chr 17
allele count: 1
allele frequency: 8.300132802124834e-6
allele num: 120480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.714C>T
  hgvsp: ENSP00000465266.1:p.Thr239Met
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.723C>T
  hgvsp: ENST00000589426.1:c.723C>T(p.%3D)
  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.801C>T
  hgvsp: ENST00000262764.6:c.801C>T(p.%3D)
  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.396C>T
  hgvsp: ENST00000329897.7:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.723C>T
  hgvsp: ENST00000589689.1:c.723C>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.349C>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.*430C>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.*400C>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.480+2425C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.797C>T
  hgvsp: ENST00000592043.1:c.797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr239Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-76396859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396859
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396859
    reference: chr 17
allele count: 24
allele frequency: 1.992395689783991e-4
allele num: 120458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.799C>T
  hgvsp: ENSP00000466219.1:p.Ala267Val
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.725C>T
  hgvsp: ENSP00000468431.1:p.Ala242Val
  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.803C>T
  hgvsp: ENSP00000262764.5:p.Ala268Val
  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.*432C>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.480+2427C>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.351C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.725C>T
  hgvsp: ENSP00000465908.1:p.Ala242Val
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.716C>T
  hgvsp: ENSP00000465266.1:p.Arg240Trp
  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.*402C>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.398C>T
  hgvsp: ENSP00000330039.7:p.Ala133Val
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala268Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

17-76396863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396863
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396863
    reference: chr 17
allele count: 6
allele frequency: 4.983471486237313e-5
allele num: 120398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.803G>A
  hgvsp: ENST00000592043.1:c.803G>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.*406G>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.402G>A
  hgvsp: ENST00000329897.7:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.729G>A
  hgvsp: ENST00000589689.1:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.720G>A
  hgvsp: ENSP00000465266.1:p.Trp241Ter
  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.355G>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.*436G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.729G>A
  hgvsp: ENST00000589426.1:c.729G>A(p.%3D)
  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.480+2431G>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.807G>A
  hgvsp: ENST00000262764.6:c.807G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29343
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp241Ter
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

17-76396879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396879
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396879
    reference: chr 17
allele count: 1
allele frequency: 8.342510094437214e-6
allele num: 119868
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.480+2447C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.745C>T
  hgvsp: ENSP00000468431.1:p.Gln249Ter
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.418C>T
  hgvsp: ENSP00000330039.7:p.Gln140Ter
  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.*452C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.819C>T
  hgvsp: ENSP00000466219.1:p.Gln274Ter
  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.371C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.745C>T
  hgvsp: ENSP00000465908.1:p.Gln249Ter
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.823C>T
  hgvsp: ENSP00000262764.5:p.Gln275Ter
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.736C>T
  hgvsp: ENST00000587356.1:c.736C>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: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*422C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln275Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD

17-76396882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396882
    reference: chr 17
allele count: 1
allele frequency: 8.360365180751095e-6
allele num: 119612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.739C>T
  hgvsp: ENST00000587356.1:c.739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.822C>T
  hgvsp: ENST00000592043.1:c.822C>T(p.%3D)
  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.480+2450C>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.826C>T
  hgvsp: ENST00000262764.6:c.826C>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.*455C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.748C>T
  hgvsp: ENST00000589689.1:c.748C>T(p.%3D)
  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.421C>T
  hgvsp: ENST00000329897.7:c.421C>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: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*425C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.748C>T
  hgvsp: ENST00000589426.1:c.748C>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.374C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu276Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-76396888-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396888
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396888
    reference: chr 17
allele count: 1
allele frequency: 8.41651657212113e-6
allele num: 118814
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.427G>T
  hgvsp: ENSP00000330039.7:p.Gly143Trp
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.828G>T
  hgvsp: ENSP00000466219.1:p.Gly277Trp
  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.832G>T
  hgvsp: ENSP00000262764.5:p.Gly278Trp
  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.*461G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.754G>T
  hgvsp: ENSP00000465908.1:p.Gly252Trp
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.745G>T
  hgvsp: ENSP00000465266.1:p.Arg249Ser
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.754G>T
  hgvsp: ENSP00000468431.1:p.Gly252Trp
  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.380G>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.*431G>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.480+2456G>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly278Trp
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

17-76396891-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396891
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396891
    reference: chr 17
allele count: 1
allele frequency: 8.453514125822104e-6
allele num: 118294
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.430G>T
  hgvsp: ENSP00000330039.7:p.Asp144Tyr
  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.*434G>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.383G>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.480+2459G>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.835G>T
  hgvsp: ENSP00000262764.5:p.Asp279Tyr
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.757G>T
  hgvsp: ENSP00000465908.1:p.Asp253Tyr
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.748G>T
  hgvsp: ENST00000587356.1:c.748G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.757G>T
  hgvsp: ENSP00000468431.1:p.Asp253Tyr
  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.*464G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.831G>T
  hgvsp: ENSP00000466219.1:p.Asp278Tyr
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp279Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

17-76396893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396893
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396893
    reference: chr 17
allele count: 5
allele frequency: 4.249388088115312e-5
allele num: 117664
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.837C>T
  hgvsp: ENST00000262764.6:c.837C>T(p.%3D)
  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.432C>T
  hgvsp: ENST00000329897.7:c.432C>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.385C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.759C>T
  hgvsp: ENST00000589689.1:c.759C>T(p.%3D)
  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.480+2461C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.759C>T
  hgvsp: ENST00000589426.1:c.759C>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.*466C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.750C>T
  hgvsp: ENSP00000465266.1:p.Thr251Met
  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.*436C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.833C>T
  hgvsp: ENST00000592043.1:c.833C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28207
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr251Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-76396894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396894
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396894
    reference: chr 17
allele count: 2
allele frequency: 1.699581902851899e-5
allele num: 117676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.834G>A
  hgvsp: ENSP00000466219.1:p.Asp279Asn
  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.386G>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.433G>A
  hgvsp: ENSP00000330039.7:p.Asp145Asn
  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.838G>A
  hgvsp: ENSP00000262764.5:p.Asp280Asn
  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.*467G>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.480+2462G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.751G>A
  hgvsp: ENST00000587356.1:c.751G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.760G>A
  hgvsp: ENSP00000465908.1:p.Asp254Asn
  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.*437G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.760G>A
  hgvsp: ENSP00000468431.1:p.Asp254Asn
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7296
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp280Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum

17-76396896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396896
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396896
    reference: chr 17
allele count: 6
allele frequency: 5.117707267144319e-5
allele num: 117240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.836C>T
  hgvsp: ENST00000592043.1:c.836C>T(p.%3D)
  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.480+2464C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.753C>T
  hgvsp: ENSP00000465266.1:p.Thr252Ile
  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.388C>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.435C>T
  hgvsp: ENST00000329897.7:c.435C>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: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*439C>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.840C>T
  hgvsp: ENST00000262764.6:c.840C>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.*469C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.762C>T
  hgvsp: ENST00000589426.1:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.762C>T
  hgvsp: ENST00000589689.1:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27988
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13452
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr252Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-76396897-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396897
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396897
    reference: chr 17
allele count: 3
allele frequency: 2.562832100326334e-5
allele num: 117058
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.*470A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.763A>G
  hgvsp: ENSP00000468431.1:p.Thr255Ala
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.837A>G
  hgvsp: ENSP00000466219.1:p.Thr280Ala
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.763A>G
  hgvsp: ENSP00000465908.1:p.Thr255Ala
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.754A>G
  hgvsp: ENST00000587356.1:c.754A>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.389A>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.841A>G
  hgvsp: ENSP00000262764.5:p.Thr281Ala
  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.436A>G
  hgvsp: ENSP00000330039.7:p.Thr146Ala
  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.480+2465A>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.*440A>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr281Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-76396899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396899
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396899
    reference: chr 17
allele count: 8
allele frequency: 6.919816624859441e-5
allele num: 115610
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.843G>A
  hgvsp: ENST00000262764.6:c.843G>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.*442G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.765G>A
  hgvsp: ENST00000589689.1:c.765G>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.*472G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.765G>A
  hgvsp: ENST00000589426.1:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.756G>A
  hgvsp: ENSP00000465266.1:p.Arg253Gln
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.839G>A
  hgvsp: ENST00000592043.1:c.839G>A(p.%3D)
  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.480+2467G>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.391G>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.438G>A
  hgvsp: ENST00000329897.7:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26917
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg253Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

17-76396905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396905
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396905
    reference: chr 17
allele count: 1
allele frequency: 8.794920054176708e-6
allele num: 113702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.845G>A
  hgvsp: ENST00000592043.1:c.845G>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.*478G>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.444G>A
  hgvsp: ENST00000329897.7:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.771G>A
  hgvsp: ENST00000589426.1:c.771G>A(p.%3D)
  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.849G>A
  hgvsp: ENST00000262764.6:c.849G>A(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.397G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.771G>A
  hgvsp: ENST00000589689.1:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.762G>A
  hgvsp: ENSP00000465266.1:p.Arg255Lys
  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.*448G>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.480+2473G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5878
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg255Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-76396910-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396910
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396911
    reference: chr 17
allele count: 1
allele frequency: 8.974566079730045e-6
allele num: 111426
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.778dupG
  hgvsp: ENSP00000468431.1:p.Asp260GlyfsTer20
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.778dupG
  hgvsp: ENSP00000465908.1:p.Asp260GlyfsTer20
  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.*455dupG
  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.480+2480dupG
  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.*485dupG
  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.451dupG
  hgvsp: ENSP00000330039.7:p.Asp151GlyfsTer20
  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.404dupG
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.852dupG
  hgvsp: ENSP00000466219.1:p.Asp285GlyfsTer20
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.769dupG
  hgvsp: ENSP00000465266.1:p.Met258AspfsTer?
  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.856dupG
  hgvsp: ENSP00000262764.5:p.Asp286GlyfsTer20
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9959
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp286GlyfsTer20
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-76396912-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396912
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396912
    reference: chr 17
allele count: 1
allele frequency: 8.979885057471264e-6
allele num: 111360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.778G>C
  hgvsp: ENSP00000465908.1:p.Asp260His
  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.404G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465266
  ensembl transcript: ENST00000587356
  gene symbol: PGS1
  hgvsc: ENST00000587356.1:c.769G>C
  hgvsp: ENSP00000465266.1:p.Trp257Cys
  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.1G>C
  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.451G>C
  hgvsp: ENSP00000330039.7:p.Asp151His
  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.480+2480G>C
  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.856G>C
  hgvsp: ENSP00000262764.5:p.Asp286His
  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.*485G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.852G>C
  hgvsp: ENSP00000466219.1:p.Asp285His
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.778G>C
  hgvsp: ENSP00000468431.1:p.Asp260His
  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.*455G>C
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8046
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp286His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-76396937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396937
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396937
    reference: chr 17
allele count: 1
allele frequency: 1.05889578347699e-5
allele num: 94438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*509+1G>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.480+2505G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.880+1G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.475+1G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.802+1G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+1G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.25+1G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465278
  ensembl transcript: ENST00000589425
  gene symbol: PGS1
  hgvsc: ENST00000589425.1:c.*479+1G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+1G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000087157
  ensembl transcript: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.428+1G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 6.75e1
  variant carriers: 0
hgvs: c.880+1G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-76396939-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396939
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396939
    reference: chr 17
allele count: 4
allele frequency: 4.371966947929874e-5
allele num: 91492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+3A>G
  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.428+3A>G
  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.880+3A>G
  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.802+3A>G
  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.*479+3A>G
  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.*509+3A>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.480+2507A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+3A>G
  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: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.25+3A>G
  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.475+3A>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10390
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22713
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 2.75e1
  variant carriers: 0
hgvs: c.880+3A>G
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-76396943-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396943
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396943
    reference: chr 17
allele count: 87
allele frequency: 1.015382460726874e-3
allele num: 85682
alternate allele: C
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.*479+7G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+7G>C
  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.428+7G>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.480+2511G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+7G>C
  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.880+7G>C
  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.802+7G>C
  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.*509+7G>C
  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.475+7G>C
  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: ENST00000591996
  gene symbol: PGS1
  hgvsc: ENST00000591996.1:n.25+7G>C
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11499
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 22485
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 3.75e1
  variant carriers: 12
hgvs: c.880+7G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-76396946-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396946
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396946
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 86634
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000262764
  ensembl transcript: ENST00000262764
  gene symbol: PGS1
  hgvsc: ENST00000262764.6:c.880+10G>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.428+10G>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.475+10G>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.802+10G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+10G>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.*479+10G>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+10G>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.*509+10G>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.480+2514G>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.25+10G>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12494
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

17-76396948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396948
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396948
    reference: chr 17
allele count: 9
allele frequency: 1.071301035591001e-4
allele num: 84010
alternate allele: T
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.25+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.802+12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+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.480+2516C>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.*479+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.*509+12C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+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.880+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: ENST00000588281
  gene symbol: PGS1
  hgvsc: ENST00000588281.1:n.428+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.475+12C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21599
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13279
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-76396949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396949
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396949
    reference: chr 17
allele count: 1
allele frequency: 1.198437237841854e-5
allele num: 83442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+13G>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.480+2517G>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.*509+13G>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.880+13G>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.802+13G>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.428+13G>A
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+13G>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.*479+13G>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.475+13G>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.25+13G>A
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9595
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-76396951-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396951
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 82614
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.802+15T>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.475+15T>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.880+15T>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.480+2519T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+15T>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.*509+15T>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.25+15T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+15T>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.*479+15T>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.428+15T>C
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14213
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-76396955-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396955
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396955
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 76226
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.*479+19A>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.*509+19A>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.802+19A>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.25+19A>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.428+19A>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.480+2523A>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+19A>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+19A>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.475+19A>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.880+19A>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 2.5e0
  variant carriers: 0
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: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

17-76396958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396958
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396958
    reference: chr 17
allele count: 5
allele frequency: 6.659385738259503e-5
allele num: 75082
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.802+22C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+22C>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.480+2526C>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.*509+22C>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.428+22C>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.880+22C>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.25+22C>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.*479+22C>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.475+22C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+22C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19112
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5324
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

17-76396961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396961
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396961
    reference: chr 17
allele count: 1
allele frequency: 1.360507197083073e-5
allele num: 73502
alternate allele: T
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.*509+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.880+25C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+25C>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.*479+25C>T
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+25C>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.480+2529C>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.25+25C>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.802+25C>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.475+25C>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.428+25C>T
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9330
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

17-76396962-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396962
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396962
    reference: chr 17
allele count: 20
allele frequency: 2.720126213856323e-4
allele num: 73526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.475+26T>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.480+2530T>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.*479+26T>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.428+26T>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.802+26T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+26T>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.880+26T>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+26T>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.25+26T>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.*509+26T>C
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16875
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18897
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15530
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-76396963-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396963
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396963
    reference: chr 17
allele count: 45284
allele frequency: 6.258499640665598e-1
allele num: 72356
alternate allele: G
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.802+27A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+27A>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.480+2531A>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.*509+27A>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.*479+27A>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.428+27A>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.880+27A>G
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+27A>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.25+27A>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.475+27A>G
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 339
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 2.5e0
  variant carriers: 1502
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 2.75e1
  variant carriers: 1303
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.25e1
  variant carriers: 3379
genotype depth: GenotypeDepth
  all individuals: 18552
  bin: 1.25e1
  variant carriers: 15163
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 1.75e1
  variant carriers: 8485
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 271
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 3.25e1
  variant carriers: 697
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 208
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 17671
  bin: 7.5e0
  variant carriers: 12654
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 9.75e1
  variant carriers: 707
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 297
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 955
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 1237
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 3.25e1
  variant carriers: 2970
num of homozygotes: 13605
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

17-76396976-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76396976
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 76396976
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 49632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000330039
  ensembl transcript: ENST00000329897
  gene symbol: PGS1
  hgvsc: ENST00000329897.7:c.475+40G>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.880+40G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000465908
  ensembl transcript: ENST00000589689
  gene symbol: PGS1
  hgvsc: ENST00000589689.1:c.802+40G>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.428+40G>C
  variant of: http://identifiers.org/hgnc/30029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087157
  ensembl protein: ENSP00000466219
  ensembl transcript: ENST00000592043
  gene symbol: PGS1
  hgvsc: ENST00000592043.1:c.876+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: ENSP00000468431
  ensembl transcript: ENST00000589426
  gene symbol: PGS1
  hgvsc: ENST00000589426.1:c.802+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: ENSP00000467804
  ensembl transcript: ENST00000588169
  gene symbol: PGS1
  hgvsc: ENST00000588169.1:c.*509+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.*479+40G>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.25+40G>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.480+2544G>C
  variant of: http://identifiers.org/hgnc/30029
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22850
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3461
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5294
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15866
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8069
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 2.25e1
variant carriers: 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: 9794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.017028189777069e-5
allele num: 66478
num of homozygotes: 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
allele num: 11556
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.593e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 2.236982e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

QD
type: SiteQuality
SIO_000300: 1.341e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.322e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15835
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 600
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4433
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14468
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7735
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 9790
num of homozygotes: 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
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.121449559255632e-5
allele num: 16336
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.211194e6

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.22e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15833
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5185
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

FS
type: SiteQuality
SIO_000300: 3.605e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.683e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.138e0

QD
type: SiteQuality
SIO_000300: 1.203e1

DP
type: SiteQuality
SIO_000300: 2.210878e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14407
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15817
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3317
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.652e0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

DP
type: SiteQuality
SIO_000300: 2.205094e6

QD
type: SiteQuality
SIO_000300: 1.205e1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.444e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4404
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 119
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15817
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14407
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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: 66410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.482702577199907e-4
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

FS
type: SiteQuality
SIO_000300: 4.652e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.444e0

DP
type: SiteQuality
SIO_000300: 2.205094e6

QD
type: SiteQuality
SIO_000300: 1.205e1

GenotypeQuality
all individuals: 2112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4389
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15808
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 294
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3435
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
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: 894
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.829e0

DP
type: SiteQuality
SIO_000300: 2.200853e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.863e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.308e1

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13821
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15802
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3428
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

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

European (Finnish)
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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: 8612
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: 3.9e-3

FS
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DP
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SIO_000300: 2.194836e6

BaseQRankSum
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SIO_000300: -1.747e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.42e-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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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: 9778
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507249871883761e-5
allele num: 66346
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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DP
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SIO_000300: 2.175424e6

ReadPosRankSum
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SIO_000300: -2.11e-1

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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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 7.76e-1

VQSLOD
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MQ
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SIO_000300: 6.0e1

QD
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BaseQRankSum
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SIO_000300: -2.125e0

DP
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SIO_000300: 2.170018e6

MQRankSum
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SIO_000300: 1.15e0

InbreedingCoeff
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SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.023541453428864e-4
allele num: 9770
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -7.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.017e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 4.037e0

QD
type: SiteQuality
SIO_000300: 1.641e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 2.14697e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.366182836771072e-5
allele num: 15708
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.312e0

MQ
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SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 1.745576e6

MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 8.218999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

ReadPosRankSum
type: SiteQuality
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QD
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SIO_000300: 1.151e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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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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allele num: 66312
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8602
num of homozygotes: 0

African
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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South Asian
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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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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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Latino
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South Asian
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Other
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European (Non-Finnish)
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allele num: 66402
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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FS
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VQSLOD
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MQ
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DP
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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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GenotypeQuality
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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

African
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allele num: 9808
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
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: 2
allele frequency: 3.011503945070168e-5
allele num: 66412
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.46e0

VQSLOD
type: SiteQuality
SIO_000300: -1.41e0

FS
type: SiteQuality
SIO_000300: 1.208e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.18e-1

DP
type: SiteQuality
SIO_000300: 1.763014e6

QD
type: SiteQuality
SIO_000300: 1.251e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43330
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7764
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.038735983690112e-4
allele num: 9810
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.765912e6

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

QD
type: SiteQuality
SIO_000300: 3.254e1

FS
type: SiteQuality
SIO_000300: 4.576e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.284e0

VQSLOD
type: SiteQuality
SIO_000300: -1.485e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 184
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7787
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

DP
type: SiteQuality
SIO_000300: 1.767582e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.415e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.208e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 9.75e1
variant carriers: 43

GenotypeQuality
all individuals: 1559
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 41
allele frequency: 3.541810642709053e-3
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.159911297277319e-5
allele num: 16234
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.531e0

DP
type: SiteQuality
SIO_000300: 1.777813e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 6.04e-1

GenotypeQuality
all individuals: 407
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1560
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7895
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006162633398467e-5
allele num: 66530
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 9810
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.049e-1

FS
type: SiteQuality
SIO_000300: 3.909e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.625e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.113e1

MQ
type: SiteQuality
SIO_000300: 5.9e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 1.77446e6

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7924
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2663
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1562
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variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44485
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004717406327935e-5
allele num: 66562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

FS
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
SIO_000300: 1.173e1

DP
type: SiteQuality
SIO_000300: 1.777239e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7941
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2662
bin: 9.75e1
variant carriers: 1

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

DP
type: SiteQuality
SIO_000300: 1.778906e6

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

FS
type: SiteQuality
SIO_000300: 3.509e0

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.5e0
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GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
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GenotypeQuality
all individuals: 148
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GenotypeQuality
all individuals: 44598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
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GenotypeQuality
all individuals: 7944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.928e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.176e0

VQSLOD
type: SiteQuality
SIO_000300: 9.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.171e1

FS
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.779562e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

GenotypeQuality
all individuals: 145
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2661
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001560811622043e-5
allele num: 66632
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.779562e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.171e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.176e0

FS
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 9.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.928e0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2658
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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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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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 1.779621e6

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.478e0

FS
type: SiteQuality
SIO_000300: 4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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GenotypeQuality
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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
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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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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.019367991845056e-4
allele num: 9810
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

FS
type: SiteQuality
SIO_000300: 4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.478e0

DP
type: SiteQuality
SIO_000300: 1.779621e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
all individuals: 46
bin: 3.25e1
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: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

DP
type: SiteQuality
SIO_000300: 1.780153e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.331e0

FS
type: SiteQuality
SIO_000300: 3.97e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.217e1

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44592
bin: 6.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.22e-2

DP
type: SiteQuality
SIO_000300: 1.780015e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

FS
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 1.285e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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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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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: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

FS
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.780125e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
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

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

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

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.016e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.780446e6

GenotypeQuality
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bin: 2.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

East Asian
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: 900
num of homozygotes: 0

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

European (Finnish)
type: Population
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
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MQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.121e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

BaseQRankSum
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DP
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MQ
type: SiteQuality
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QD
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SIO_000300: 8.130000000000001e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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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
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GenotypeQuality
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bin: 2.75e1
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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: 2

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 7.87e0

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.261e-1

DP
type: SiteQuality
SIO_000300: 1.780671e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

FS
type: SiteQuality
SIO_000300: 6.838e0

GenotypeQuality
all individuals: 1563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
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: 9814
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.242e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 5.147e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.76e-1

InbreedingCoeff
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SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 1.780714e6

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
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bin: 6.75e1
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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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

European (Finnish)
type: Population
allele count: 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: 8624
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.431906614785992e-4
allele num: 16448
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 1.255e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 4.075e0

BaseQRankSum
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SIO_000300: -1.434e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.780592e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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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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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.317e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.577e-1

DP
type: SiteQuality
SIO_000300: 1.780656e6

FS
type: SiteQuality
SIO_000300: 5.237e0

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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variant carriers: 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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bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.032e1

QD
type: SiteQuality
SIO_000300: 1.458e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 1.552e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.780587e6

GenotypeQuality
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bin: 7.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
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QD
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SIO_000300: 1.444e1

BaseQRankSum
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SIO_000300: 2.41e0

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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variant carriers: 3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.019160211985324e-4
allele num: 9812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 2
allele frequency: 1.216989168796398e-4
allele num: 16434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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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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MQRankSum
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 2
allele frequency: 2.038735983690112e-4
allele num: 9810
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

European (Finnish)
type: Population
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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num of homozygotes: 0

MQRankSum
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SIO_000300: -1.019e0

MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

FS
type: SiteQuality
SIO_000300: 1.259e0

QD
type: SiteQuality
SIO_000300: 1.385e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 1.78044e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

GenotypeQuality
all individuals: 165
bin: 2.25e1
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
all individuals: 18
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.779934e6

FS
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MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
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InbreedingCoeff
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SIO_000300: 2.1e-3

BaseQRankSum
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SIO_000300: -4.808e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

VQSLOD
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SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 6.0960741282614e-5
allele num: 16404
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.019160211985324e-4
allele num: 9812
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.99e-1

MQ
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SIO_000300: 5.965e1

VQSLOD
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SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

QD
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SIO_000300: 1.423e1

MQRankSum
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SIO_000300: 6.06e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.779058e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 55
allele frequency: 6.381991181248549e-3
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.594e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

FS
type: SiteQuality
SIO_000300: 8.05e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.779371e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-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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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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: 4.8e-1

VQSLOD
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BaseQRankSum
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SIO_000300: 4.5e0

MQRankSum
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SIO_000300: 2.4e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
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SIO_000300: 5.988e1

QD
type: SiteQuality
SIO_000300: 1.154e1

DP
type: SiteQuality
SIO_000300: 1.774004e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-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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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
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allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
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: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.851910780222749e-4
allele num: 66622
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.039567611666327e-4
allele num: 9806
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South Asian
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allele frequency: 1.225039813793948e-4
allele num: 16326
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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DP
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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allele frequency: 2.454891371056831e-4
allele num: 16294
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African
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allele frequency: 1.019991840065279e-4
allele num: 9804
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
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ReadPosRankSum
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SIO_000300: 1.81e0

FS
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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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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GenotypeQuality
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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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allele num: 16002
num of homozygotes: 0

European (Finnish)
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allele count: 0
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East Asian
type: Population
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

African
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allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

InbreedingCoeff
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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BaseQRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 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 frequency: 0.0e0
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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: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ClippingRankSum
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ReadPosRankSum
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DP
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SIO_000300: 1.755539e6

FS
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.102e0

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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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513179796023364e-5
allele num: 66086
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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.884e1

ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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QD
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BaseQRankSum
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SIO_000300: 3.77e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65904
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African
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allele count: 1
allele frequency: 1.0315659170621e-4
allele num: 9694
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South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -1.801e0

BaseQRankSum
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DP
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ClippingRankSum
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SIO_000300: -9.19e-1

VQSLOD
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FS
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SIO_000300: 7.173e0

QD
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SIO_000300: 1.027e1

ReadPosRankSum
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SIO_000300: 6.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.626905235255136e-5
allele num: 15090
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.092545770250099e-5
allele num: 65654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 1.64e0

MQ
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VQSLOD
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QD
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SIO_000300: 1.402e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

BaseQRankSum
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SIO_000300: 4.18e0

DP
type: SiteQuality
SIO_000300: 1.708762e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Latino
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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: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523275651961979e-5
allele num: 65648
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.037344398340249e-4
allele num: 9640
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.441e0

QD
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-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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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9616
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
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Latino
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allele frequency: 5.296610169491525e-4
allele num: 11328
num of homozygotes: 0

South Asian
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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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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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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allele count: 0
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Latino
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allele frequency: 0.0e0
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African
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Other
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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: 0
allele frequency: 0.0e0
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European (Finnish)
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South Asian
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allele frequency: 2.010184937014205e-4
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8
allele frequency: 1.236093943139679e-4
allele num: 64720
num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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Other
type: Population
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Latino
type: Population
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African
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.367e1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 4.495e0

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
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variant carriers: 1

GenotypeQuality
all individuals: 1276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36771
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 7.5e0
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GenotypeQuality
all individuals: 7910
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14178
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.130752373995617e-5
allele num: 10952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.590448e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5031
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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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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: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 240
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variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.43040362127499e-5
allele num: 10604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 1.524652e6

FS
type: SiteQuality
SIO_000300: 3.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.975e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.132e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 163
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variant carriers: 0

GenotypeQuality
all individuals: 1146
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 2423
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variant carriers: 1

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: 49
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 536
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1080
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variant carriers: 0

GenotypeQuality
all individuals: 10797
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variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593625498007968e-5
allele num: 62750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13752
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

QD
type: SiteQuality
SIO_000300: 7.26e0

VQSLOD
type: SiteQuality
SIO_000300: -1.992e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.520975e6

GenotypeQuality
all individuals: 5160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 186
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variant carriers: 0

GenotypeQuality
all individuals: 2448
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variant carriers: 0

GenotypeQuality
all individuals: 4930
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 911
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variant carriers: 0

GenotypeQuality
all individuals: 23847
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variant carriers: 0

GenotypeQuality
all individuals: 523
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GenotypeQuality
all individuals: 340
bin: 5.25e1
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GenotypeQuality
all individuals: 2388
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3216
bin: 7.5e0
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GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.267105930055753e-4
allele num: 7892
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54022
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.805e0

VQSLOD
type: SiteQuality
SIO_000300: -1.975e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.527e1

DP
type: SiteQuality
SIO_000300: 1.068245e6

GenotypeQuality
all individuals: 1443
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1566
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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: 1

GenotypeQuality
all individuals: 5604
bin: 3.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 591
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 432
bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
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variant carriers: 0

GenotypeQuality
all individuals: 502
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.719951189749848e-5
allele num: 52448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.051702913418137e-4
allele num: 4874
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.544e0

FS
type: SiteQuality
SIO_000300: 7.095999999999999e1

DP
type: SiteQuality
SIO_000300: 1.03161e6

MQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 2.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.38e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.619e0

GenotypeQuality
all individuals: 321
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 4427
bin: 7.5e0
variant carriers: 13

GenotypeQuality
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bin: 3.25e1
variant carriers: 10

GenotypeQuality
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bin: 4.75e1
variant carriers: 11

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 2.75e1
variant carriers: 13

GenotypeQuality
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bin: 1.25e1
variant carriers: 11

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 228
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variant carriers: 1

GenotypeQuality
all individuals: 252
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variant carriers: 2

GenotypeQuality
all individuals: 1940
bin: 2.5e0
variant carriers: 8

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1631
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2272
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 6602
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1214
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 22419
bin: 2.25e1
variant carriers: 8

GenotypeQuality
all individuals: 378
bin: 7.25e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 57
allele frequency: 1.152772721757068e-3
allele num: 49446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 14
allele frequency: 3.252788104089219e-3
allele num: 4304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.616031027795734e-4
allele num: 6188
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.869969040247678e-4
allele num: 7752
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.416029453412631e-3
allele num: 7062
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.289473684210526e-3
allele num: 608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

FS
type: SiteQuality
SIO_000300: 4.1379e1

DP
type: SiteQuality
SIO_000300: 9.96888e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.516999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.324e0

QD
type: SiteQuality
SIO_000300: 4.4e-1

GenotypeQuality
all individuals: 795
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4700
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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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variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 9.63041e5

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.167e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.246e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

QD
type: SiteQuality
SIO_000300: 6.12e0

GenotypeQuality
all individuals: 2041
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
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variant carriers: 0

GenotypeQuality
all individuals: 5408
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GenotypeQuality
all individuals: 885
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variant carriers: 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
all individuals: 414
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GenotypeQuality
all individuals: 2611
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 374
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 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: 4758
num of homozygotes: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 1.84305373525557e-4
allele num: 48832
num of homozygotes: 0

QD
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.731e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
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MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.75e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.383891502906172e-4
allele num: 7226
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -7.36e-1

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
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 48132
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5820
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 9.25331e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

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

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.699e-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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44786
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 9.02927e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.864e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.739e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

GenotypeQuality
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bin: 4.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5

African
type: Population
allele count: 2
allele frequency: 3.01295570955107e-4
allele num: 6638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 5.188516084399862e-4
allele num: 5782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

QD
type: SiteQuality
SIO_000300: 1.058e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 8.91897e5

GenotypeQuality
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bin: 7.5e0
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
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allele count: 0
allele frequency: 0.0e0
allele num: 5088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.30755030459664e-5
allele num: 43336
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
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VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.15e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

DP
type: SiteQuality
SIO_000300: 8.87518e5

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 20
allele frequency: 3.933910306845004e-3
allele num: 5084
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

QD
type: SiteQuality
SIO_000300: 1.639e1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 8.8675e5

GenotypeQuality
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variant carriers: 877

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1012
bin: 8.75e1
variant carriers: 986

Other
type: Population
allele count: 340
allele frequency: 6.319702602230484e-1
allele num: 538
num of homozygotes: 101

European (Non-Finnish)
type: Population
allele count: 27037
allele frequency: 6.345819837581561e-1
allele num: 42606
num of homozygotes: 8185

African
type: Population
allele count: 4009
allele frequency: 6.128095383674718e-1
allele num: 6542
num of homozygotes: 1179

Latino
type: Population
allele count: 3664
allele frequency: 6.775147928994083e-1
allele num: 5408
num of homozygotes: 1172

European (Finnish)
type: Population
allele count: 2915
allele frequency: 7.208209693372898e-1
allele num: 4044
num of homozygotes: 1031

East Asian
type: Population
allele count: 2409
allele frequency: 4.91231647634584e-1
allele num: 4904
num of homozygotes: 543

South Asian
type: Population
allele count: 4910
allele frequency: 5.905701226846284e-1
allele num: 8314
num of homozygotes: 1394

DP
type: SiteQuality
SIO_000300: 9.36149e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.76e-2

MQ
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0