8-101721763-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721763
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721763
    reference: chr 8
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1169G>A
  hgvsp: ENSP00000313007.5:p.Arg390Gln
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.775G>A
  hgvsp: ENSP00000427914.1:p.Arg259Gln
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.1034G>A
  hgvsp: ENSP00000429594.1:p.Arg345Gln
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.313G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.127G>A
  hgvsp: ENSP00000428190.1:p.Arg43Gln
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.1073G>A
  hgvsp: ENSP00000429395.1:p.Arg358Gln
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*109G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.240G>A
  hgvsp: ENSP00000428948.1:p.Arg81Gln
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.666G>A
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44485
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg390Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

8-101721764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721764
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721764
    reference: chr 8
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.126C>T
  hgvsp: ENSP00000428190.1:p.Arg43Ter
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.774C>T
  hgvsp: ENSP00000427914.1:p.Arg259Ter
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.1072C>T
  hgvsp: ENSP00000429395.1:p.Arg358Ter
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*108C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.1033C>T
  hgvsp: ENSP00000429594.1:p.Arg345Ter
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.239C>T
  hgvsp: ENSP00000428948.1:p.Arg81Ter
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1168C>T
  hgvsp: ENSP00000313007.5:p.Arg390Ter
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.665C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.312C>T
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44485
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg390Ter
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

8-101721812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721812
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721812
    reference: chr 8
allele count: 45519
allele frequency: 3.862124554556253e-1
allele num: 117860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.985C>T
  hgvsp: ENSP00000429594.1:p.Arg329Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.726C>T
  hgvsp: ENSP00000427914.1:p.Arg243Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1120C>T
  hgvsp: ENSP00000313007.5:p.Arg374Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.617C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.264C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*60C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.1024C>T
  hgvsp: ENSP00000429395.1:p.Arg342Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-33C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.191C>T
  hgvsp: ENSP00000428948.1:p.Arg65Cys
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.75e1
  variant carriers: 566
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45640
  bin: 9.75e1
  variant carriers: 41194
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 8.75e1
  variant carriers: 1071
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 8.25e1
  variant carriers: 799
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 9.25e1
  variant carriers: 1338
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.25e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.75e1
  variant carriers: 208
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 197
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.5e0
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.25e1
  variant carriers: 157
hgvs: p.Arg374Cys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

8-101721817-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721817
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721817
    reference: chr 8
allele count: 45500
allele frequency: 3.874846709360948e-1
allele num: 117424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*55A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.612A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.980A>G
  hgvsp: ENSP00000429594.1:p.Glu327Gly
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.1019A>G
  hgvsp: ENSP00000429395.1:p.Glu340Gly
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-38A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.259A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1115A>G
  hgvsp: ENSP00000313007.5:p.Glu372Gly
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.186A>G
  hgvsp: ENSP00000428948.1:p.Glu63Gly
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.721A>G
  hgvsp: ENSP00000427914.1:p.Glu241Gly
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 8.75e1
  variant carriers: 1164
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 44981
  bin: 9.75e1
  variant carriers: 40648
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 895
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 427
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 9.25e1
  variant carriers: 1471
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.75e1
  variant carriers: 645
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.25e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.75e1
  variant carriers: 259
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 8.25e1
  variant carriers: 251
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.5e0
  variant carriers: 91
hgvs: p.Glu372Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

8-101721823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721823
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721823
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.180G>A
  hgvsp: ENSP00000428948.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.974G>A
  hgvsp: ENSP00000429594.1:p.Arg325His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.253G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-44G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.1013G>A
  hgvsp: ENSP00000429395.1:p.Arg338His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1109G>A
  hgvsp: ENSP00000313007.5:p.Arg370His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.715G>A
  hgvsp: ENSP00000427914.1:p.Arg239His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.606G>A
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37365
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg370His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-101721824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721824
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721824
    reference: chr 8
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.252C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.179C>T
  hgvsp: ENSP00000428948.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-45C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1108C>T
  hgvsp: ENSP00000313007.5:p.Arg370Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.1012C>T
  hgvsp: ENSP00000429395.1:p.Arg338Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.973C>T
  hgvsp: ENSP00000429594.1:p.Arg325Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.714C>T
  hgvsp: ENSP00000427914.1:p.Arg239Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.605C>T
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37365
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg370Cys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

8-101721825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721825
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721825
    reference: chr 8
allele count: 28
allele frequency: 2.306995138831672e-4
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.972G>A
  hgvsp: ENST00000519004.1:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.1011G>A
  hgvsp: ENST00000522387.1:c.1011G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.251G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.713G>A
  hgvsp: ENST00000519100.1:c.713G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1107G>A
  hgvsp: ENST00000318607.5:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.178G>A
  hgvsp: ENST00000523636.1:c.178G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-46G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.604G>A
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37365
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Gln369Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

8-101721829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721829
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721829
    reference: chr 8
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.968C>T
  hgvsp: ENSP00000429594.1:p.Ala323Val
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.1007C>T
  hgvsp: ENSP00000429395.1:p.Ala336Val
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.174C>T
  hgvsp: ENSP00000428948.1:p.Ala59Val
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1103C>T
  hgvsp: ENSP00000313007.5:p.Ala368Val
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-50C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.600C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*43C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.709C>T
  hgvsp: ENSP00000427914.1:p.Ala237Val
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.247C>T
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37359
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala368Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-101721839-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721839
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721839
    reference: chr 8
allele count: 34280
allele frequency: 3.09101729454834e-1
allele num: 110902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.590G>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.699G>T
  hgvsp: ENSP00000427914.1:p.Val234Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.997G>T
  hgvsp: ENSP00000429395.1:p.Val333Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1093G>T
  hgvsp: ENSP00000313007.5:p.Val365Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.237G>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-60G>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.164G>T
  hgvsp: ENSP00000428948.1:p.Val56Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*33G>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.958G>T
  hgvsp: ENSP00000429594.1:p.Val320Leu
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 8.25e1
  variant carriers: 1411
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 8.75e1
  variant carriers: 1758
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 7.25e1
  variant carriers: 866
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 9.25e1
  variant carriers: 2059
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 37339
  bin: 9.75e1
  variant carriers: 27525
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.25e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 6.75e1
  variant carriers: 585
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 7.75e1
  variant carriers: 1122
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 2.5e0
  variant carriers: 398
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 8.25e1
  variant carriers: 443
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 501
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 6.75e1
  variant carriers: 472
hgvs: p.Val365Leu
num of homozygotes: 1
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

8-101721843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721843
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721843
    reference: chr 8
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.695G>A
  hgvsp: ENST00000519100.1:c.695G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-64G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.993G>A
  hgvsp: ENST00000522387.1:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.160G>A
  hgvsp: ENST00000523636.1:c.160G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.586G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.954G>A
  hgvsp: ENST00000519004.1:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1089G>A
  hgvsp: ENST00000318607.5:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.233G>A
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu363Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

8-101721846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721846
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721846
    reference: chr 8
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*26A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.230A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.583A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.951A>G
  hgvsp: ENST00000519004.1:c.951A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1086A>G
  hgvsp: ENST00000318607.5:c.1086A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.157A>G
  hgvsp: ENST00000523636.1:c.157A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.990A>G
  hgvsp: ENST00000522387.1:c.990A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-67A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.692A>G
  hgvsp: ENST00000519100.1:c.692A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15506
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro362Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

8-101721862-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721862
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721862
    reference: chr 8
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.974T>C
  hgvsp: ENSP00000429395.1:p.Ile325Thr
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-83T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.214T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*10T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.676T>C
  hgvsp: ENSP00000427914.1:p.Ile226Thr
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.935T>C
  hgvsp: ENSP00000429594.1:p.Ile312Thr
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.567T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.141T>C
  hgvsp: ENSP00000428948.1:p.Ile48Thr
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1070T>C
  hgvsp: ENSP00000313007.5:p.Ile357Thr
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile357Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

8-101721870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721870
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721870
    reference: chr 8
allele count: 23222
allele frequency: 2.175199985012833e-1
allele num: 106758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-91C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.927C>T
  hgvsp: ENST00000519004.1:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1062C>T
  hgvsp: ENST00000318607.5:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.966C>T
  hgvsp: ENST00000522387.1:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.133C>T
  hgvsp: ENST00000523636.1:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.668C>T
  hgvsp: ENST00000519100.1:c.668C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.559C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.206C>T
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: synonymous
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 8.75e1
  variant carriers: 1728
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 7.75e1
  variant carriers: 2111
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 6.75e1
  variant carriers: 2063
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 4.75e1
  variant carriers: 668
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 7.25e1
  variant carriers: 2123
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.75e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 15475
  bin: 9.75e1
  variant carriers: 9261
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 5.75e1
  variant carriers: 1337
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 2.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 6.25e1
  variant carriers: 1757
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 5.25e1
  variant carriers: 924
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.25e1
  variant carriers: 1426
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 8.25e1
  variant carriers: 1899
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 377
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 2.75e1
  variant carriers: 731
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 9.25e1
  variant carriers: 548
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 6.75e1
  variant carriers: 630
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 1.75e1
  variant carriers: 741
hgvs: p.Asn354Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

8-101721891-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721891
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721891
    reference: chr 8
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.945T>A
  hgvsp: ENST00000522387.1:c.945T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-112T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.185T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1041T>A
  hgvsp: ENST00000318607.5:c.1041T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.906T>A
  hgvsp: ENST00000519004.1:c.906T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.112T>A
  hgvsp: ENST00000523636.1:c.112T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.375T>A
  hgvsp: ENSP00000427805.1:p.Leu126Gln
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.647T>A
  hgvsp: ENST00000519100.1:c.647T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.538T>A
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Leu126Gln
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

8-101721894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721894
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721894
    reference: chr 8
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.182C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.535C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.109C>T
  hgvsp: ENST00000523636.1:c.109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.942C>T
  hgvsp: ENST00000522387.1:c.942C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.644C>T
  hgvsp: ENST00000519100.1:c.644C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.372C>T
  hgvsp: ENSP00000427805.1:p.Pro125Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.903C>T
  hgvsp: ENST00000519004.1:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1038C>T
  hgvsp: ENST00000318607.5:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-115C>T
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10247
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro125Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-101721899-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721899
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721899
    reference: chr 8
allele count: 24676
allele frequency: 2.453029007694296e-1
allele num: 100594
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.639G>T
  hgvsp: ENSP00000427914.1:p.Glu214Ter
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.367G>T
  hgvsp: ENSP00000427805.1:p.Lys123Asn
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.104G>T
  hgvsp: ENSP00000428948.1:p.Glu36Ter
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.530G>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1033G>T
  hgvsp: ENSP00000313007.5:p.Glu345Ter
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.898G>T
  hgvsp: ENSP00000429594.1:p.Glu300Ter
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.177G>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.937G>T
  hgvsp: ENSP00000429395.1:p.Glu313Ter
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-120G>T
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: stop gained
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 8.75e1
  variant carriers: 1793
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.25e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 9.75e1
  variant carriers: 6548
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 3.75e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.75e1
  variant carriers: 1016
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 2.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 6.75e1
  variant carriers: 2570
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 8.25e1
  variant carriers: 2082
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 7.25e1
  variant carriers: 2542
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 5.75e1
  variant carriers: 1950
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 5.25e1
  variant carriers: 1497
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 6.25e1
  variant carriers: 2326
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 9.25e1
  variant carriers: 1494
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 685
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 7.75e1
  variant carriers: 2436
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 5.75e1
  variant carriers: 711
hgvs: p.Glu345Ter
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

8-101721899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721899
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721899
    reference: chr 8
allele count: 51
allele frequency: 5.069884883790286e-4
allele num: 100594
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.937G>A
  hgvsp: ENSP00000429395.1:p.Glu313Lys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.639G>A
  hgvsp: ENSP00000427914.1:p.Glu214Lys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.530G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.177G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1033G>A
  hgvsp: ENSP00000313007.5:p.Glu345Lys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.367G>A
  hgvsp: ENST00000519622.1:c.367G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-120G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.898G>A
  hgvsp: ENSP00000429594.1:p.Glu300Lys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.104G>A
  hgvsp: ENSP00000428948.1:p.Glu36Lys
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 1.25e1
  variant carriers: 3
hgvs: p.Glu345Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

8-101721902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721902
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721902
    reference: chr 8
allele count: 11
allele frequency: 9.06409136604097e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1030G>A
  hgvsp: ENSP00000313007.5:p.Glu344Lys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.636G>A
  hgvsp: ENSP00000427914.1:p.Glu213Lys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.934G>A
  hgvsp: ENSP00000429395.1:p.Glu312Lys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-1G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.895G>A
  hgvsp: ENSP00000429594.1:p.Glu299Lys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-123G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.101G>A
  hgvsp: ENSP00000428948.1:p.Glu35Lys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.174G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.527G>A
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: splice acceptor
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36659
  bin: 9.75e1
  variant carriers: 5
hgvs: c.365-1G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

8-101721908-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721908
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721908
    reference: chr 8
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.95T>C
  hgvsp: ENSP00000428948.1:p.Ser33Pro
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.630T>C
  hgvsp: ENSP00000427914.1:p.Ser211Pro
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.168T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-129T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1024T>C
  hgvsp: ENSP00000313007.5:p.Ser342Pro
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.928T>C
  hgvsp: ENSP00000429395.1:p.Ser310Pro
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-7T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.521T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.889T>C
  hgvsp: ENSP00000429594.1:p.Ser297Pro
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36635
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Ser342Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

8-101721918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721918
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721918
    reference: chr 8
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.85A>G
  hgvsp: ENST00000523636.1:c.85A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-139A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.620A>G
  hgvsp: ENST00000519100.1:c.620A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.511A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.918A>G
  hgvsp: ENST00000522387.1:c.918A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.1014A>G
  hgvsp: ENST00000318607.5:c.1014A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.879A>G
  hgvsp: ENST00000519004.1:c.879A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-17A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.158A>G
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val338Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

8-101721932-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721932
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721931
    reference: chr 8
allele count: 15608
allele frequency: 1.54113511592085e-1
allele num: 101276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.605delA
  hgvsp: ENSP00000427914.1:p.Phe204LeufsTer19
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.496delA
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.143delA
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.999delA
  hgvsp: ENSP00000313007.5:p.Phe335LeufsTer19
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.903delA
  hgvsp: ENSP00000429395.1:p.Phe303LeufsTer19
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-154delA
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.864delA
  hgvsp: ENSP00000429594.1:p.Phe290LeufsTer19
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.70delA
  hgvsp: ENSP00000428948.1:p.Phe26LeufsTer19
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-32delA
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 4.25e1
  variant carriers: 1548
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.25e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 4.75e1
  variant carriers: 2116
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 7.75e1
  variant carriers: 912
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 2.75e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 6.75e1
  variant carriers: 1704
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 6.25e1
  variant carriers: 2023
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.75e1
  variant carriers: 2476
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 8.25e1
  variant carriers: 659
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.75e1
  variant carriers: 412
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 3.25e1
  variant carriers: 637
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 9.75e1
  variant carriers: 1070
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 5.25e1
  variant carriers: 2259
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 3.75e1
  variant carriers: 944
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 7.25e1
  variant carriers: 1255
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 7.5e0
  variant carriers: 831
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.75e1
  variant carriers: 442
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 1.75e1
  variant carriers: 873
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 7.75e1
  variant carriers: 511
hgvs: p.Phe335LeufsTer19
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: CT
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-101721933-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721933
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721933
    reference: chr 8
allele count: 1
allele frequency: 1.992666985493384e-5
allele num: 50184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-154A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.496A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.999A>G
  hgvsp: ENST00000318607.5:c.999A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.605A>G
  hgvsp: ENST00000519100.1:c.605A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-32A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.70A>G
  hgvsp: ENST00000523636.1:c.70A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.903A>G
  hgvsp: ENST00000522387.1:c.903A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.864A>G
  hgvsp: ENST00000519004.1:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.143A>G
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys333Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

8-101721940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721940
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721940
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.63G>A
  hgvsp: ENSP00000428948.1:p.Arg22His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.896G>A
  hgvsp: ENSP00000429395.1:p.Arg299His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.136G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-39G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.598G>A
  hgvsp: ENSP00000427914.1:p.Arg200His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.857G>A
  hgvsp: ENSP00000429594.1:p.Arg286His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.992G>A
  hgvsp: ENSP00000313007.5:p.Arg331His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.489G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-161G>A
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg331His
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-101721948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721948
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721948
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 120616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-169G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.888G>A
  hgvsp: ENST00000522387.1:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.128G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.984G>A
  hgvsp: ENST00000318607.5:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.55G>A
  hgvsp: ENST00000523636.1:c.55G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-47G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.590G>A
  hgvsp: ENST00000519100.1:c.590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.481G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.849G>A
  hgvsp: ENST00000519004.1:c.849G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu328Glu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

8-101721950-C-CCAACCTTTGCACTAGTGATTATACCAAATGGAGAAAACATCTCCGGAGACGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721950
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101722003
    reference: chr 8
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: CCAACCTTTGCACTAGTGATTATACCAAATGGAGAAAACATCTCCGGAGACGTT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsp: ENSP00000313007.5:p.Glu328AsnfsTer14
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsp: ENSP00000429395.1:p.Glu296AsnfsTer14
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsp: ENSP00000427914.1:p.Glu197AsnfsTer14
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsp: ENSP00000428948.1:p.Glu19AsnfsTer14
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsp: ENSP00000429594.1:p.Glu283AsnfsTer14
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 14698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu328AsnfsTer14
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

8-101721951-CATCAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721951
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721946
    reference: chr 8
allele count: 147
allele frequency: 1.22540846948983e-3
allele num: 119960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-177_111-173delATGAT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.841_845delATGAT
  hgvsp: ENSP00000429594.1:p.Met281GlyfsTer21
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.880_884delATGAT
  hgvsp: ENSP00000429395.1:p.Met294GlyfsTer21
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.582_586delATGAT
  hgvsp: ENSP00000427914.1:p.Met195GlyfsTer21
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-55_365-51delATGAT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.473_477delATGAT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.47_51delATGAT
  hgvsp: ENSP00000428948.1:p.Met17GlyfsTer21
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.976_980delATGAT
  hgvsp: ENSP00000313007.5:p.Met326GlyfsTer21
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.120_124delATGAT
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 4.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 4.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 5.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 14705
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 2.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 7.25e1
  variant carriers: 5
hgvs: p.Met326GlyfsTer21
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: CATCAT
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

8-101721952-A-AACCTTTGCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721952
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721962
    reference: chr 8
allele count: 4
allele frequency: 3.407735559720566e-5
allele num: 117380
alternate allele: AACCTTTGCAC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.50_51insGTGCAAAGGT
  hgvsp: ENSP00000428948.1:p.Met18SerfsTer25
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsp: ENSP00000429594.1:p.Met282SerfsTer25
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsp: ENSP00000427914.1:p.Met196SerfsTer25
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsp: ENSP00000429395.1:p.Met295SerfsTer25
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsp: ENSP00000313007.5:p.Met327SerfsTer25
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13794
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Met327SerfsTer25
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-101721953-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721953
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721953
    reference: chr 8
allele count: 244
allele frequency: 2.296340912513176e-3
allele num: 106256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.844A>T
  hgvsp: ENSP00000429594.1:p.Met282Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.123A>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-52A>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.883A>T
  hgvsp: ENSP00000429395.1:p.Met295Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-174A>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.585A>T
  hgvsp: ENSP00000427914.1:p.Met196Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.50A>T
  hgvsp: ENSP00000428948.1:p.Met18Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.979A>T
  hgvsp: ENSP00000313007.5:p.Met327Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.476A>T
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 3.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 4.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13878
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14369
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 2.5e0
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 10
hgvs: p.Met327Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

8-101721953-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721953
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721953
    reference: chr 8
allele count: 1
allele frequency: 9.411233248004819e-6
allele num: 106256
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.979A>C
  hgvsp: ENSP00000313007.5:p.Met327Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.123A>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-52A>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.476A>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.883A>C
  hgvsp: ENSP00000429395.1:p.Met295Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-174A>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.50A>C
  hgvsp: ENSP00000428948.1:p.Met18Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.585A>C
  hgvsp: ENSP00000427914.1:p.Met196Leu
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.844A>C
  hgvsp: ENSP00000429594.1:p.Met282Leu
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met327Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/8-101721957-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721957
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721957
    reference: chr 8
allele count: 1
allele frequency: 8.666112035496396e-6
allele num: 115392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.472T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.119T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.840T>G
  hgvsp: ENST00000519004.1:c.840T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.581T>G
  hgvsp: ENST00000519100.1:c.581T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.975T>G
  hgvsp: ENST00000318607.5:c.975T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.879T>G
  hgvsp: ENST00000522387.1:c.879T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-56T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-178T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.46T>G
  hgvsp: ENST00000523636.1:c.46T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
hgvs: c.975T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

8-101721962-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721962
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721962
    reference: chr 8
allele count: 15
allele frequency: 1.334329632792485e-4
allele num: 112416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-3T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-61T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-183T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.114T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-3T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-3T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-3T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-3T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-3T>A
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15996
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16124
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.75e1
  variant carriers: 1
hgvs: c.973-3T>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

8-101721964-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721964
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721964
    reference: chr 8
allele count: 7
allele frequency: 6.344487546677301e-5
allele num: 110332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-5A>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-5A>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-5A>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-185A>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.112A>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-5A>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-5A>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-5A>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-63A>C
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14944
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 3.25e1
  variant carriers: 2
hgvs: c.973-5A>C
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-101721964-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721964
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721965
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 110332
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.111dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-6dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-6dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-6dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-64dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-6dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-6dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-6dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-186dupT
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

8-101721964-T-TAAAAAAAAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721964
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721974
    reference: chr 8
allele count: 43
allele frequency: 3.897328064387485e-4
allele num: 110332
alternate allele: TAAAAAAAAGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14944
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum

8-101721964-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721964
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721963
    reference: chr 8
allele count: 2
allele frequency: 1.812710727622086e-5
allele num: 110332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-6delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-64delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.111delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-6delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-6delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-6delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-186delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-6delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-6delT
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: TA
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-101721964-TAAAAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721964
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721958
    reference: chr 8
allele count: 2
allele frequency: 1.812710727622086e-5
allele num: 110332
alternate allele: T
canonical: false
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 14944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 858
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9100
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6438
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.295653033648617e-5
  allele num: 60686
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
reference allele: TAAAAAA
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-101721965-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721965
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721965
    reference: chr 8
allele count: 7
allele frequency: 6.528023873915881e-5
allele num: 107230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-6T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-186T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-6T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-6T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-6T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.111T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-64T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-6T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-6T>G
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16335
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12510
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 5.25e1
  variant carriers: 2
hgvs: c.973-6T>G
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/8-101721970-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721970
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721970
    reference: chr 8
allele count: 1
allele frequency: 9.227135159075811e-6
allele num: 108376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.106T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-11T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-11T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-11T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-11T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-69T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-191T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-11T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-11T>G
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

8-101721973-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721973
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721974
    reference: chr 8
allele count: 32
allele frequency: 3.205898853891159e-4
allele num: 99816
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-15dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.102dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-15dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-15dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-15dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-15dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-73dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-195dupT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-15dupT
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18103
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11759
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 1.75e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

8-101721973-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721973
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721972
    reference: chr 8
allele count: 24
allele frequency: 2.40442414041837e-4
allele num: 99816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-15delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-15delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-195delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-15delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-73delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-15delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-15delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.102delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-15delT
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18103
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 22048
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: GA
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

8-101721973-GAAAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721973
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721969
    reference: chr 8
allele count: 47
allele frequency: 4.708663941652641e-4
allele num: 99816
alternate allele: G
canonical: false
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18103
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3035
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 35
  allele frequency: 6.330945662397801e-4
  allele num: 55284
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.6e-4
  allele num: 6250
  num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 2.391200382592061e-4
  allele num: 8364
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12446
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
reference allele: GAAAA
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

8-101721973-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721973
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721973
    reference: chr 8
allele count: 1
allele frequency: 1.001843391840987e-5
allele num: 99816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-194C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.103C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-72C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-14C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-14C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-14C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-14C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-14C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-14C>G
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18103
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

8-101721974-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721974
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721974
    reference: chr 8
allele count: 1
allele frequency: 1.000040001600064e-5
allele num: 99996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-73T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-15T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-195T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-15T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-15T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.102T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-15T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-15T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-15T>C
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/8-101721978-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721978
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721978
    reference: chr 8
allele count: 3
allele frequency: 2.751536274419884e-5
allele num: 109030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-19T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-199T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-19T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-19T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-19T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.98T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-77T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-19T>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-19T>G
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

8-101721983-GTTAACGTAATGGTAGAATGAGGAGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721983
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721958
    reference: chr 8
allele count: 1
allele frequency: 9.471131989695408e-6
allele num: 105584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12117
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: GTTAACGTAATGGTAGAATGAGGAGC
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

8-101721986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721986
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721986
    reference: chr 8
allele count: 1
allele frequency: 9.552010698251983e-6
allele num: 104690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.90T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-27T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-85T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-207T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-27T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-27T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-27T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-27T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-27T>C
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14652
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

8-101721986-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721986
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721986
    reference: chr 8
allele count: 2
allele frequency: 1.910402139650397e-5
allele num: 104690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-85T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.90T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-27T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-27T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-207T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-27T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-27T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-27T>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-27T>A
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10118
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

8-101721988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721988
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721988
    reference: chr 8
allele count: 3
allele frequency: 2.907258455276674e-5
allele num: 103190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-87G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-29G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.88G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-29G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-29G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-29G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-29G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-209G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-29G>A
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8768
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7095
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

8-101721989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721989
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721989
    reference: chr 8
allele count: 2
allele frequency: 2.061303155855132e-5
allele num: 97026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-30C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-88C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-30C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.87C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-210C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-30C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-30C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-30C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-30C>T
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10812
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

8-101721997-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721997
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721997
    reference: chr 8
allele count: 2
allele frequency: 2.058799308243432e-5
allele num: 97144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-38T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-38T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-38T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.79T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-38T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-38T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-38T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-218T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-96T>C
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

8-101721999-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101721999
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101721999
    reference: chr 8
allele count: 1
allele frequency: 1.047449460563528e-5
allele num: 95470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-220T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-98T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-40T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-40T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-40T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-40T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-40T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-40T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.77T>C
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6163
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-101722002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101722002
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101722002
    reference: chr 8
allele count: 1
allele frequency: 1.098611355246968e-5
allele num: 91024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-43C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-43C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.74C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-43C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-43C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-43C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-43C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-223C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-101C>T
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

8-101722004-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101722004
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101722004
    reference: chr 8
allele count: 7
allele frequency: 7.720474698901486e-5
allele num: 90668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.877-45C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.111-225C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.973-45C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.579-45C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.470-45C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000518716
  gene symbol: PABPC1
  hgvsc: ENST00000518716.1:n.72C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.44-45C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.365-103C>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.838-45C>G
  variant of: http://identifiers.org/hgnc/8554
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20690
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14360
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6039
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-101724541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724541
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724541
    reference: chr 8
allele count: 9
allele frequency: 7.526342197691921e-5
allele num: 119580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.43+49C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.972+49C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.876+49C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+339C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.469+49C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.578+49C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.364+49C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.837+49C>T
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

8-101724545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724545
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724545
    reference: chr 8
allele count: 10
allele frequency: 8.356871855726964e-5
allele num: 119662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.578+45C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.876+45C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.837+45C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+335C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.972+45C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.469+45C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.43+45C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.364+45C>T
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42137
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 2
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-101724552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724552
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724552
    reference: chr 8
allele count: 5
allele frequency: 4.175574559059327e-5
allele num: 119744
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.972+38A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.876+38A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.43+38A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+328A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.469+38A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.578+38A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.364+38A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.837+38A>G
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

8-101724569-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724569
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724569
    reference: chr 8
allele count: 1
allele frequency: 8.325424180361989e-6
allele num: 120114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.578+21T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.469+21T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+311T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.837+21T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.972+21T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.364+21T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.876+21T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.43+21T>C
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

8-101724575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724575
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724575
    reference: chr 8
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.972+15G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.837+15G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.364+15G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+305G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.876+15G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.578+15G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.469+15G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.43+15G>A
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

8-101724575-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724575
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724573
    reference: chr 8
allele count: 13
allele frequency: 1.079734219269103e-4
allele num: 120400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.876+13_876+14delAT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.43+13_43+14delAT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.837+13_837+14delAT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.364+13_364+14delAT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.469+13_469+14delAT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.972+13_972+14delAT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.578+13_578+14delAT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+303_110+304delAT
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42138
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: CAT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

8-101724578-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724578
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724578
    reference: chr 8
allele count: 1
allele frequency: 8.300959590928711e-6
allele num: 120468
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.972+12T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.578+12T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.364+12T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.837+12T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+302T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.469+12T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.43+12T>C
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.876+12T>C
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8240
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

8-101724580-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724580
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724580
    reference: chr 8
allele count: 3
allele frequency: 2.488139866635703e-5
allele num: 120572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.876+10C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.364+10C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.837+10C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.972+10C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+300C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.469+10C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.578+10C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.43+10C>T
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

8-101724584-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724584
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724584
    reference: chr 8
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.43+6A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.972+6A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.469+6A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.876+6A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.578+6A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.364+6A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+296A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.837+6A>G
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8691
  bin: 6.25e1
  variant carriers: 0
hgvs: c.972+6A>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

8-101724587-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724587
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724587
    reference: chr 8
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.469+3A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.876+3A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.578+3A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+293A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.972+3A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.837+3A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.43+3A>G
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.364+3A>G
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.75e1
  variant carriers: 0
hgvs: c.972+3A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-101724629-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724629
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724629
    reference: chr 8
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+251G>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.539G>T
  hgvsp: ENST00000519100.1:c.539G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.325G>T
  hgvsp: ENST00000519622.1:c.325G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.837G>T
  hgvsp: ENST00000522387.1:c.837G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.430G>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.933G>T
  hgvsp: ENST00000318607.5:c.933G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.798G>T
  hgvsp: ENST00000519004.1:c.798G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.4G>T
  hgvsp: ENST00000523636.1:c.4G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg311Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

8-101724630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724630
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724630
    reference: chr 8
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.932G>A
  hgvsp: ENSP00000313007.5:p.Arg311Gln
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.797G>A
  hgvsp: ENSP00000429594.1:p.Arg266Gln
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.429G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.324G>A
  hgvsp: ENSP00000427805.1:p.Arg109Gln
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.3G>A
  hgvsp: ENSP00000428948.1:p.Arg2Gln
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.538G>A
  hgvsp: ENSP00000427914.1:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+250G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.836G>A
  hgvsp: ENSP00000429395.1:p.Arg279Gln
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg311Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

8-101724631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724631
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724631
    reference: chr 8
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.323C>T
  hgvsp: ENSP00000427805.1:p.Arg109Trp
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+249C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.537C>T
  hgvsp: ENSP00000427914.1:p.Arg180Trp
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.428C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428948
  ensembl transcript: ENST00000523636
  gene symbol: PABPC1
  hgvsc: ENST00000523636.1:c.2C>T
  hgvsp: ENSP00000428948.1:p.Arg2Trp
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.931C>T
  hgvsp: ENSP00000313007.5:p.Arg311Trp
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.835C>T
  hgvsp: ENSP00000429395.1:p.Arg279Trp
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.796C>T
  hgvsp: ENSP00000429594.1:p.Arg266Trp
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg311Trp
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-101724636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724636
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724636
    reference: chr 8
allele count: 2
allele frequency: 1.652564780539397e-5
allele num: 121024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.830G>A
  hgvsp: ENSP00000429395.1:p.Arg277His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.926G>A
  hgvsp: ENSP00000313007.5:p.Arg309His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+244G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.423G>A
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.318G>A
  hgvsp: ENSP00000427805.1:p.Arg107His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.791G>A
  hgvsp: ENSP00000429594.1:p.Arg264His
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.532G>A
  hgvsp: ENSP00000427914.1:p.Arg178His
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg309His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-101724637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724637
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724637
    reference: chr 8
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+243C>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.790C>T
  hgvsp: ENSP00000429594.1:p.Arg264Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.925C>T
  hgvsp: ENSP00000313007.5:p.Arg309Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.317C>T
  hgvsp: ENSP00000427805.1:p.Arg107Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.829C>T
  hgvsp: ENSP00000429395.1:p.Arg277Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.531C>T
  hgvsp: ENSP00000427914.1:p.Arg178Cys
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.422C>T
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9057
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg309Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-101724687-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724687
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724687
    reference: chr 8
allele count: 2
allele frequency: 1.664115023630433e-5
allele num: 120184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.781-2A>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.877-2A>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.742-2A>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.269-2A>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.483-2A>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+193A>T
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.374-2A>T
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42118
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
hgvs: c.877-2A>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

8-101724687-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101724687
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101724686
    reference: chr 8
allele count: 1
allele frequency: 8.320575118152166e-6
allele num: 120184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000428190
  ensembl transcript: ENST00000517403
  gene symbol: PABPC1
  hgvsc: ENST00000517403.1:c.110+192delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429594
  ensembl transcript: ENST00000519004
  gene symbol: PABPC1
  hgvsc: ENST00000519004.1:c.742-3delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl transcript: ENST00000519596
  gene symbol: PABPC1
  hgvsc: ENST00000519596.1:n.374-3delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000429395
  ensembl transcript: ENST00000522387
  gene symbol: PABPC1
  hgvsc: ENST00000522387.1:c.781-3delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427914
  ensembl transcript: ENST00000519100
  gene symbol: PABPC1
  hgvsc: ENST00000519100.1:c.483-3delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000427805
  ensembl transcript: ENST00000519622
  gene symbol: PABPC1
  hgvsc: ENST00000519622.1:c.269-3delT
  variant of: http://identifiers.org/hgnc/8554
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070756
  ensembl protein: ENSP00000313007
  ensembl transcript: ENST00000318607
  gene symbol: PABPC1
  hgvsc: ENST00000318607.5:c.877-3delT
  variant of: http://identifiers.org/hgnc/8554
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42118
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
hgvs: c.877-3delT
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: TA
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

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

GenotypeQuality
all individuals: 750
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5343
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 492
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 679
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51073
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1732
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
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: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.172e0

MQ
type: SiteQuality
SIO_000300: 5.124e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.613e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e0

MQRankSum
type: SiteQuality
SIO_000300: -3.234e0

DP
type: SiteQuality
SIO_000300: 7.54518e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

QD
type: SiteQuality
SIO_000300: 2.46e0

VQSLOD
type: SiteQuality
SIO_000300: -4.973e0

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

GenotypeQuality
all individuals: 1732
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 51073
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5343
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 750
bin: 7.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.027e0

FS
type: SiteQuality
SIO_000300: 1.2133e1

QD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.362e1

MQRankSum
type: SiteQuality
SIO_000300: -3.563e0

DP
type: SiteQuality
SIO_000300: 7.545162e6

GenotypeQuality
all individuals: 44463
bin: 9.75e1
variant carriers: 42384

GenotypeQuality
all individuals: 883
bin: 7.75e1
variant carriers: 224

GenotypeQuality
all individuals: 5518
bin: 6.25e1
variant carriers: 190

GenotypeQuality
all individuals: 435
bin: 3.25e1
variant carriers: 168

GenotypeQuality
all individuals: 402
bin: 4.25e1
variant carriers: 176

GenotypeQuality
all individuals: 2008
bin: 6.75e1
variant carriers: 276

GenotypeQuality
all individuals: 406
bin: 3.75e1
variant carriers: 194

GenotypeQuality
all individuals: 384
bin: 1.75e1
variant carriers: 133

GenotypeQuality
all individuals: 366
bin: 2.75e1
variant carriers: 136

GenotypeQuality
all individuals: 342
bin: 7.5e0
variant carriers: 141

GenotypeQuality
all individuals: 358
bin: 1.25e1
variant carriers: 150

GenotypeQuality
all individuals: 516
bin: 9.25e1
variant carriers: 251

GenotypeQuality
all individuals: 947
bin: 7.25e1
variant carriers: 226

GenotypeQuality
all individuals: 615
bin: 8.75e1
variant carriers: 266

GenotypeQuality
all individuals: 709
bin: 8.25e1
variant carriers: 256

GenotypeQuality
all individuals: 461
bin: 4.75e1
variant carriers: 210

East Asian
type: Population
allele count: 3771
allele frequency: 4.468009478672986e-1
allele num: 8440
num of homozygotes: 0

Other
type: Population
allele count: 354
allele frequency: 4.013605442176871e-1
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24314
allele frequency: 3.755869995056846e-1
allele num: 64736
num of homozygotes: 0

Latino
type: Population
allele count: 3987
allele frequency: 3.597726042230645e-1
allele num: 11082
num of homozygotes: 0

African
type: Population
allele count: 4313
allele frequency: 4.22843137254902e-1
allele num: 10200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2106
allele frequency: 3.340736040609137e-1
allele num: 6304
num of homozygotes: 0

South Asian
type: Population
allele count: 6674
allele frequency: 4.115688209176122e-1
allele num: 16216
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.166e-1

MQ
type: SiteQuality
SIO_000300: 5.051e1

MQRankSum
type: SiteQuality
SIO_000300: -5.726e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

FS
type: SiteQuality
SIO_000300: 1.508e0

DP
type: SiteQuality
SIO_000300: 7.862231e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.338e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.423e1

QD
type: SiteQuality
SIO_000300: 3.98e0

GenotypeQuality
all individuals: 1969
bin: 6.75e1
variant carriers: 251

GenotypeQuality
all individuals: 506
bin: 9.25e1
variant carriers: 260

GenotypeQuality
all individuals: 409
bin: 2.25e1
variant carriers: 166

GenotypeQuality
all individuals: 384
bin: 7.5e0
variant carriers: 141

GenotypeQuality
all individuals: 423
bin: 1.75e1
variant carriers: 148

GenotypeQuality
all individuals: 5571
bin: 6.25e1
variant carriers: 204

GenotypeQuality
all individuals: 412
bin: 5.25e1
variant carriers: 198

GenotypeQuality
all individuals: 431
bin: 3.75e1
variant carriers: 184

GenotypeQuality
all individuals: 351
bin: 2.75e1
variant carriers: 136

GenotypeQuality
all individuals: 924
bin: 7.25e1
variant carriers: 219

GenotypeQuality
all individuals: 429
bin: 4.75e1
variant carriers: 214

GenotypeQuality
all individuals: 44347
bin: 9.75e1
variant carriers: 42410

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 156

GenotypeQuality
all individuals: 388
bin: 4.25e1
variant carriers: 166

GenotypeQuality
all individuals: 432
bin: 5.75e1
variant carriers: 207

GenotypeQuality
all individuals: 859
bin: 7.75e1
variant carriers: 219

Latino
type: Population
allele count: 3982
allele frequency: 3.604924859677711e-1
allele num: 11046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2109
allele frequency: 3.379807692307693e-1
allele num: 6240
num of homozygotes: 0

South Asian
type: Population
allele count: 6674
allele frequency: 4.116703676289168e-1
allele num: 16212
num of homozygotes: 0

Other
type: Population
allele count: 355
allele frequency: 4.024943310657597e-1
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 3769
allele frequency: 4.475184041795298e-1
allele num: 8422
num of homozygotes: 0

African
type: Population
allele count: 4311
allele frequency: 4.237271476312168e-1
allele num: 10174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24300
allele frequency: 3.770481628599802e-1
allele num: 64448
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.175e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.876e1

DP
type: SiteQuality
SIO_000300: 7.734813e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.05e0

MQRankSum
type: SiteQuality
SIO_000300: -5.459e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

MQ
type: SiteQuality
SIO_000300: 4.975e1

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50387
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 1

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
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: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.401e0

VQSLOD
type: SiteQuality
SIO_000300: -3.573e0

FS
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -3.559e0

MQ
type: SiteQuality
SIO_000300: 4.843e1

DP
type: SiteQuality
SIO_000300: 6.722443e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.009e0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50389
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5623
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
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: 8654
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 6.722412e6

MQ
type: SiteQuality
SIO_000300: 4.83e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.373e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.307e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

FS
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 2.02e0

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50339
bin: 9.75e1
variant carriers: 17

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 27
allele frequency: 2.603664416586307e-3
allele num: 10370
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.314e0

FS
type: SiteQuality
SIO_000300: 9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.549e0

MQRankSum
type: SiteQuality
SIO_000300: -3.566e0

DP
type: SiteQuality
SIO_000300: 6.722345e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 4.753e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

QD
type: SiteQuality
SIO_000300: 1.18e0

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

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

GenotypeQuality
all individuals: 50385
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5623
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 334
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 1.498441620714457e-5
allele num: 66736
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: 10406
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.187e0

MQ
type: SiteQuality
SIO_000300: 4.417e1

QD
type: SiteQuality
SIO_000300: 8.27e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.355e0

FS
type: SiteQuality
SIO_000300: 8.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.588e0

DP
type: SiteQuality
SIO_000300: 6.721086e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

GenotypeQuality
all individuals: 1020
bin: 9.25e1
variant carriers: 441

GenotypeQuality
all individuals: 1125
bin: 2.75e1
variant carriers: 465

GenotypeQuality
all individuals: 1213
bin: 1.25e1
variant carriers: 552

GenotypeQuality
all individuals: 1109
bin: 2.25e1
variant carriers: 460

GenotypeQuality
all individuals: 1173
bin: 1.75e1
variant carriers: 541

GenotypeQuality
all individuals: 1170
bin: 3.25e1
variant carriers: 492

GenotypeQuality
all individuals: 1175
bin: 7.5e0
variant carriers: 509

GenotypeQuality
all individuals: 1175
bin: 3.75e1
variant carriers: 523

GenotypeQuality
all individuals: 6385
bin: 6.25e1
variant carriers: 453

GenotypeQuality
all individuals: 1528
bin: 7.25e1
variant carriers: 446

GenotypeQuality
all individuals: 1509
bin: 7.75e1
variant carriers: 487

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 438

GenotypeQuality
all individuals: 30926
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variant carriers: 27215

GenotypeQuality
all individuals: 1170
bin: 4.75e1
variant carriers: 516

GenotypeQuality
all individuals: 1084
bin: 5.25e1
variant carriers: 446

GenotypeQuality
all individuals: 1118
bin: 5.75e1
variant carriers: 481

South Asian
type: Population
allele count: 5136
allele frequency: 3.376281882724165e-1
allele num: 15212
num of homozygotes: 0

Other
type: Population
allele count: 257
allele frequency: 3.126520681265207e-1
allele num: 822
num of homozygotes: 0

African
type: Population
allele count: 3619
allele frequency: 3.7627365356623e-1
allele num: 9618
num of homozygotes: 0

East Asian
type: Population
allele count: 3096
allele frequency: 3.85362210604929e-1
allele num: 8034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1411
allele frequency: 2.381032737090786e-1
allele num: 5926
num of homozygotes: 0

Latino
type: Population
allele count: 2828
allele frequency: 2.693846446942275e-1
allele num: 10498
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 17933
allele frequency: 2.949894722989867e-1
allele num: 60792
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.369e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.064e0

MQ
type: SiteQuality
SIO_000300: 4.507e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.405e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.553e0

VQSLOD
type: SiteQuality
SIO_000300: 5.556e1

FS
type: SiteQuality
SIO_000300: 3.616e0

DP
type: SiteQuality
SIO_000300: 6.714224e6

QD
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-1

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

GenotypeQuality
all individuals: 737
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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
all individuals: 680
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.343e0

DP
type: SiteQuality
SIO_000300: 4.867779e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

MQ
type: SiteQuality
SIO_000300: 4.321e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.151e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 47134
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6753
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 737
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 680
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

Latino
type: Population
allele count: 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: 10406
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: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.474e0

DP
type: SiteQuality
SIO_000300: 4.867717e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.429e0

VQSLOD
type: SiteQuality
SIO_000300: -6.145e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.88e0

MQ
type: SiteQuality
SIO_000300: 4.336e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.003e1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 916
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GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 737
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GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 6721
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variant carriers: 0

GenotypeQuality
all individuals: 1093
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variant carriers: 0

GenotypeQuality
all individuals: 679
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.791e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

DP
type: SiteQuality
SIO_000300: 4.867117e6

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 6.989e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.581e0

QD
type: SiteQuality
SIO_000300: 1.006e1

GenotypeQuality
all individuals: 1691
bin: 4.75e1
variant carriers: 629

GenotypeQuality
all individuals: 2077
bin: 7.75e1
variant carriers: 576

GenotypeQuality
all individuals: 2171
bin: 7.25e1
variant carriers: 673

GenotypeQuality
all individuals: 1702
bin: 1.25e1
variant carriers: 741

GenotypeQuality
all individuals: 1629
bin: 4.25e1
variant carriers: 650

GenotypeQuality
all individuals: 1654
bin: 3.25e1
variant carriers: 684

GenotypeQuality
all individuals: 1748
bin: 2.25e1
variant carriers: 731

GenotypeQuality
all individuals: 2237
bin: 2.5e0
variant carriers: 617

GenotypeQuality
all individuals: 1540
bin: 8.75e1
variant carriers: 533

GenotypeQuality
all individuals: 1637
bin: 7.5e0
variant carriers: 749

GenotypeQuality
all individuals: 1761
bin: 8.25e1
variant carriers: 592

GenotypeQuality
all individuals: 19559
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variant carriers: 13705

GenotypeQuality
all individuals: 1672
bin: 5.25e1
variant carriers: 622

GenotypeQuality
all individuals: 1699
bin: 3.75e1
variant carriers: 682

GenotypeQuality
all individuals: 7924
bin: 6.25e1
variant carriers: 659

GenotypeQuality
all individuals: 1581
bin: 5.75e1
variant carriers: 577

European (Non-Finnish)
type: Population
allele count: 11697
allele frequency: 1.999692276130885e-1
allele num: 58494
num of homozygotes: 0

Latino
type: Population
allele count: 1777
allele frequency: 1.730282375851996e-1
allele num: 10270
num of homozygotes: 0

South Asian
type: Population
allele count: 3954
allele frequency: 2.712678375411636e-1
allele num: 14576
num of homozygotes: 0

African
type: Population
allele count: 2608
allele frequency: 2.843436546009595e-1
allele num: 9172
num of homozygotes: 0

Other
type: Population
allele count: 176
allele frequency: 2.2e-1
allele num: 800
num of homozygotes: 0

East Asian
type: Population
allele count: 2131
allele frequency: 2.810604062252704e-1
allele num: 7582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 879
allele frequency: 1.498976807639836e-1
allele num: 5864
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.86906e6

FS
type: SiteQuality
SIO_000300: 3.8835e1

MQRankSum
type: SiteQuality
SIO_000300: -3.581e0

VQSLOD
type: SiteQuality
SIO_000300: 1.443e1

MQ
type: SiteQuality
SIO_000300: 3.542e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.467e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.833e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

QD
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
all individuals: 1044
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 8091
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 748
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 920
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GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 1245
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GenotypeQuality
all individuals: 44550
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variant carriers: 2

GenotypeQuality
all individuals: 2783
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 4.241676e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.439e0

VQSLOD
type: SiteQuality
SIO_000300: -3.949e0

MQ
type: SiteQuality
SIO_000300: 3.762e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
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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: 920
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GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 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: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.924557351809084e-4
allele num: 10392
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.35e-1

DP
type: SiteQuality
SIO_000300: 4.241207e6

MQ
type: SiteQuality
SIO_000300: 4.134e1

QD
type: SiteQuality
SIO_000300: 1.098e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.012e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.73e-1

GenotypeQuality
all individuals: 2027
bin: 1.75e1
variant carriers: 797

GenotypeQuality
all individuals: 1939
bin: 3.25e1
variant carriers: 801

GenotypeQuality
all individuals: 1768
bin: 5.25e1
variant carriers: 708

GenotypeQuality
all individuals: 1358
bin: 8.25e1
variant carriers: 616

GenotypeQuality
all individuals: 3407
bin: 6.75e1
variant carriers: 693

GenotypeQuality
all individuals: 1905
bin: 2.75e1
variant carriers: 782

GenotypeQuality
all individuals: 1150
bin: 8.75e1
variant carriers: 623

GenotypeQuality
all individuals: 1845
bin: 4.75e1
variant carriers: 767

GenotypeQuality
all individuals: 2018
bin: 1.25e1
variant carriers: 825

GenotypeQuality
all individuals: 4294
bin: 2.5e0
variant carriers: 685

GenotypeQuality
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bin: 2.25e1
variant carriers: 786

GenotypeQuality
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bin: 6.25e1
variant carriers: 682

GenotypeQuality
all individuals: 2062
bin: 7.5e0
variant carriers: 817

GenotypeQuality
all individuals: 1929
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GenotypeQuality
all individuals: 1101
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variant carriers: 626

GenotypeQuality
all individuals: 1752
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GenotypeQuality
all individuals: 1692
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variant carriers: 613

GenotypeQuality
all individuals: 1821
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variant carriers: 654

GenotypeQuality
all individuals: 16257
bin: 9.75e1
variant carriers: 14108

African
type: Population
allele count: 2683
allele frequency: 3.093865313653136e-1
allele num: 8672
num of homozygotes: 0

Latino
type: Population
allele count: 1882
allele frequency: 1.976060478790424e-1
allele num: 9524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12517
allele frequency: 2.275321747982259e-1
allele num: 55012
num of homozygotes: 0

Other
type: Population
allele count: 187
allele frequency: 2.434895833333333e-1
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 991
allele frequency: 1.832470414201184e-1
allele num: 5408
num of homozygotes: 0

South Asian
type: Population
allele count: 4180
allele frequency: 2.993411629905471e-1
allele num: 13964
num of homozygotes: 0

East Asian
type: Population
allele count: 2236
allele frequency: 3.085840463704113e-1
allele num: 7246
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 4.003e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.216e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.921e-1

DP
type: SiteQuality
SIO_000300: 4.302394e6

MQRankSum
type: SiteQuality
SIO_000300: -3.313e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.546e0

QD
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 2027
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2037
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2062
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 1651
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1905
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1845
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 8693
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1821
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1768
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1150
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1939
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4294
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 1692
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1101
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 16257
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 3407
bin: 6.75e1
variant carriers: 2

East Asian
type: Population
allele count: 3
allele frequency: 4.140215291195142e-4
allele num: 7246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 3.453791899949102e-4
allele num: 55012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 21
allele frequency: 3.883136094674556e-3
allele num: 5408
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.459409594095941e-4
allele num: 8672
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.099958000839983e-4
allele num: 9524
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.90625e-3
allele num: 768
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.003e1

VQSLOD
type: SiteQuality
SIO_000300: 2.216e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.546e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.313e0

QD
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 4.302394e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.921e-1

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 4105
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variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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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: 17
bin: 2.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12169
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.088155104513784e-4
allele num: 6602
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: -7.613e1

DP
type: SiteQuality
SIO_000300: 3.251662e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.23e2

MQRankSum
type: SiteQuality
SIO_000300: -1.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.201e0

MQ
type: SiteQuality
SIO_000300: 4.126e1

QD
type: SiteQuality
SIO_000300: 5.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4097
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 1

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 979
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1808
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.166e1

QD
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 3.250066e6

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 1.14292e2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.729e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 4.414e1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 4092
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36622
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 12158
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variant carriers: 0

GenotypeQuality
all individuals: 977
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 8.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.593360995850622e-4
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

QD
type: SiteQuality
SIO_000300: 2.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.126e0

FS
type: SiteQuality
SIO_000300: 2.497e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.551e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

DP
type: SiteQuality
SIO_000300: 3.248111e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 4.314e1

GenotypeQuality
all individuals: 3966
bin: 2.5e0
variant carriers: 699

GenotypeQuality
all individuals: 1941
bin: 1.25e1
variant carriers: 742

GenotypeQuality
all individuals: 1069
bin: 9.25e1
variant carriers: 449

GenotypeQuality
all individuals: 1953
bin: 3.25e1
variant carriers: 727

GenotypeQuality
all individuals: 1934
bin: 4.25e1
variant carriers: 600

GenotypeQuality
all individuals: 2298
bin: 2.25e1
variant carriers: 805

GenotypeQuality
all individuals: 9816
bin: 9.75e1
variant carriers: 6627

GenotypeQuality
all individuals: 12470
bin: 6.25e1
variant carriers: 582

GenotypeQuality
all individuals: 2054
bin: 2.75e1
variant carriers: 686

GenotypeQuality
all individuals: 2001
bin: 3.75e1
variant carriers: 704

GenotypeQuality
all individuals: 2156
bin: 7.25e1
variant carriers: 489

GenotypeQuality
all individuals: 1884
bin: 5.25e1
variant carriers: 659

GenotypeQuality
all individuals: 1852
bin: 4.75e1
variant carriers: 692

GenotypeQuality
all individuals: 1785
bin: 5.75e1
variant carriers: 524

GenotypeQuality
all individuals: 4651
bin: 6.75e1
variant carriers: 615

GenotypeQuality
all individuals: 1564
bin: 8.25e1
variant carriers: 496

African
type: Population
allele count: 1679
allele frequency: 1.94960520204366e-1
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 2532
allele frequency: 1.878895814781834e-1
allele num: 13476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7990
allele frequency: 1.423937838608497e-1
allele num: 56112
num of homozygotes: 0

Latino
type: Population
allele count: 1184
allele frequency: 1.225165562913907e-1
allele num: 9664
num of homozygotes: 0

Other
type: Population
allele count: 113
allele frequency: 1.522911051212938e-1
allele num: 742
num of homozygotes: 0

East Asian
type: Population
allele count: 1539
allele frequency: 2.206135321100917e-1
allele num: 6976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 571
allele frequency: 1.002809975412715e-1
allele num: 5694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.964e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.852e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

QD
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.158e0

DP
type: SiteQuality
SIO_000300: 3.213426e6

FS
type: SiteQuality
SIO_000300: 1.7622e1

MQ
type: SiteQuality
SIO_000300: 4.767e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.633e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

GenotypeQuality
all individuals: 3851
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
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variant carriers: 0

GenotypeQuality
all individuals: 628
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variant carriers: 0

GenotypeQuality
all individuals: 529
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variant carriers: 0

GenotypeQuality
all individuals: 649
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variant carriers: 0

GenotypeQuality
all individuals: 360
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GenotypeQuality
all individuals: 1237
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variant carriers: 0

GenotypeQuality
all individuals: 885
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variant carriers: 0

GenotypeQuality
all individuals: 12115
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variant carriers: 0

GenotypeQuality
all individuals: 415
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GenotypeQuality
all individuals: 89
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GenotypeQuality
all individuals: 1082
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variant carriers: 0

GenotypeQuality
all individuals: 302
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GenotypeQuality
all individuals: 319
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GenotypeQuality
all individuals: 1505
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GenotypeQuality
all individuals: 1294
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.401591945030274e-5
allele num: 29398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQ
type: SiteQuality
SIO_000300: 4.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.911e0

FS
type: SiteQuality
SIO_000300: 5.407e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.51e-2

DP
type: SiteQuality
SIO_000300: 1.135674e6

VQSLOD
type: SiteQuality
SIO_000300: -2.097e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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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
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 1936
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.372e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

MQ
type: SiteQuality
SIO_000300: 4.698e1

FS
type: SiteQuality
SIO_000300: 2.5391e1

QD
type: SiteQuality
SIO_000300: 9.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.352e0

DP
type: SiteQuality
SIO_000300: 2.26458e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.019e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

GenotypeQuality
all individuals: 45
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variant carriers: 1

GenotypeQuality
all individuals: 178
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GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
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GenotypeQuality
all individuals: 1874
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 3692
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GenotypeQuality
all individuals: 185
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GenotypeQuality
all individuals: 1036
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GenotypeQuality
all individuals: 187
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GenotypeQuality
all individuals: 245
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GenotypeQuality
all individuals: 8107
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GenotypeQuality
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GenotypeQuality
all individuals: 27423
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GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.176e0

FS
type: SiteQuality
SIO_000300: 2.1e1

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.701e0

DP
type: SiteQuality
SIO_000300: 2.252173e6

VQSLOD
type: SiteQuality
SIO_000300: -5.662e0

MQ
type: SiteQuality
SIO_000300: 5.163e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3429
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26977
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.75e1
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GenotypeQuality
all individuals: 3713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.825112988799372e-5
allele num: 10178
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.2128e1

QD
type: SiteQuality
SIO_000300: 3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.165e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

DP
type: SiteQuality
SIO_000300: 2.235693e6

MQRankSum
type: SiteQuality
SIO_000300: -2.45e0

VQSLOD
type: SiteQuality
SIO_000300: -3.168e0

MQ
type: SiteQuality
SIO_000300: 5.238e1

GenotypeQuality
all individuals: 3707
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 7

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 14

GenotypeQuality
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bin: 1.75e1
variant carriers: 26

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 17

GenotypeQuality
all individuals: 27063
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variant carriers: 6

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 271
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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variant carriers: 16

GenotypeQuality
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variant carriers: 11

GenotypeQuality
all individuals: 9580
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1852
bin: 9.25e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.067961165048543e-4
allele num: 6592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 75
allele frequency: 1.137087237332848e-3
allele num: 65958
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.221702525724976e-3
allele num: 8552
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.045478306325144e-3
allele num: 11478
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 1.875616979269497e-3
allele num: 10130
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.039628180039139e-3
allele num: 16352
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.7846e1

MQ
type: SiteQuality
SIO_000300: 5.154e1

MQRankSum
type: SiteQuality
SIO_000300: -1.847e0

DP
type: SiteQuality
SIO_000300: 2.233003e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.668e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.467e0

QD
type: SiteQuality
SIO_000300: 2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
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variant carriers: 0

GenotypeQuality
all individuals: 155
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GenotypeQuality
all individuals: 299
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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: 1

GenotypeQuality
all individuals: 397
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1809
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variant carriers: 0

GenotypeQuality
all individuals: 3540
bin: 7.75e1
variant carriers: 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: 1.547316952404531e-5
allele num: 64628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16002
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.838607035531201e-5
allele num: 11314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.41254523522316e-4
allele num: 8290
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.233e0

DP
type: SiteQuality
SIO_000300: 2.147739e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.301e0

MQ
type: SiteQuality
SIO_000300: 5.137e1

FS
type: SiteQuality
SIO_000300: 2.5534e1

QD
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.178e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

GenotypeQuality
all individuals: 1192
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 2543
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variant carriers: 5

GenotypeQuality
all individuals: 1103
bin: 3.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
all individuals: 7677
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GenotypeQuality
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GenotypeQuality
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variant carriers: 20

GenotypeQuality
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GenotypeQuality
all individuals: 2779
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
all individuals: 25029
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variant carriers: 7

GenotypeQuality
all individuals: 2662
bin: 9.75e1
variant carriers: 115

GenotypeQuality
all individuals: 1267
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variant carriers: 13

Other
type: Population
allele count: 2
allele frequency: 2.427184466019417e-3
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 119
allele frequency: 2.028293846940515e-3
allele num: 58670
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 3.311258278145695e-3
allele num: 8758
num of homozygotes: 0

South Asian
type: Population
allele count: 35
allele frequency: 2.4151255865305e-3
allele num: 14492
num of homozygotes: 0

East Asian
type: Population
allele count: 33
allele frequency: 4.61151481274455e-3
allele num: 7156
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.467710371819961e-3
allele num: 10220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.792698826597132e-3
allele num: 6136
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.614e0

VQSLOD
type: SiteQuality
SIO_000300: -1.296e1

QD
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 4.2494e1

MQ
type: SiteQuality
SIO_000300: 5.114e1

MQRankSum
type: SiteQuality
SIO_000300: -1.874e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

DP
type: SiteQuality
SIO_000300: 2.135361e6

GenotypeQuality
all individuals: 1103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25029
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
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variant carriers: 0

GenotypeQuality
all individuals: 3614
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2135
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variant carriers: 0

GenotypeQuality
all individuals: 674
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1216
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variant carriers: 0

GenotypeQuality
all individuals: 772
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variant carriers: 0

GenotypeQuality
all individuals: 1321
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variant carriers: 0

GenotypeQuality
all individuals: 756
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variant carriers: 0

GenotypeQuality
all individuals: 7677
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variant carriers: 0

GenotypeQuality
all individuals: 2779
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variant carriers: 0

GenotypeQuality
all individuals: 502
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.141813199360585e-4
allele num: 8758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.874e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.614e0

FS
type: SiteQuality
SIO_000300: 4.2494e1

QD
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 2.135361e6

MQ
type: SiteQuality
SIO_000300: 5.114e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.296e1

GenotypeQuality
all individuals: 205
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variant carriers: 0

GenotypeQuality
all individuals: 9213
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variant carriers: 0

GenotypeQuality
all individuals: 474
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variant carriers: 0

GenotypeQuality
all individuals: 1108
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GenotypeQuality
all individuals: 1725
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GenotypeQuality
all individuals: 575
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variant carriers: 0

GenotypeQuality
all individuals: 500
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GenotypeQuality
all individuals: 1369
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 545
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GenotypeQuality
all individuals: 2928
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GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 548
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GenotypeQuality
all individuals: 29851
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 625
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variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.045587620242576e-4
allele num: 9564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15734
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

MQ
type: SiteQuality
SIO_000300: 5.574e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e0

QD
type: SiteQuality
SIO_000300: 7.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.078e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

FS
type: SiteQuality
SIO_000300: 6.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 1.890651e6

VQSLOD
type: SiteQuality
SIO_000300: -2.117e0

GenotypeQuality
all individuals: 407
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variant carriers: 2

GenotypeQuality
all individuals: 946
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GenotypeQuality
all individuals: 329
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GenotypeQuality
all individuals: 503
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GenotypeQuality
all individuals: 1104
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GenotypeQuality
all individuals: 2258
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variant carriers: 0

GenotypeQuality
all individuals: 6937
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GenotypeQuality
all individuals: 813
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GenotypeQuality
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GenotypeQuality
all individuals: 896
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GenotypeQuality
all individuals: 665
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GenotypeQuality
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GenotypeQuality
all individuals: 2695
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GenotypeQuality
all individuals: 648
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GenotypeQuality
all individuals: 1700
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variant carriers: 1

GenotypeQuality
all individuals: 8457
bin: 6.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.714711311162203e-5
allele num: 61762
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.316829075585989e-4
allele num: 15188
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.522567703109327e-4
allele num: 7976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.076194575979337e-4
allele num: 9292
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.41e0

MQRankSum
type: SiteQuality
SIO_000300: -1.732e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.388e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.662e0

DP
type: SiteQuality
SIO_000300: 1.808121e6

GenotypeQuality
all individuals: 1324
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1622
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8335
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GenotypeQuality
all individuals: 380
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GenotypeQuality
all individuals: 290
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1000
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GenotypeQuality
all individuals: 768
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GenotypeQuality
all individuals: 7976
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GenotypeQuality
all individuals: 2394
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GenotypeQuality
all individuals: 25878
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GenotypeQuality
all individuals: 572
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GenotypeQuality
all individuals: 2069
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10692
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.098901098901099e-4
allele num: 9100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.943479550472926e-5
allele num: 60686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.834355828220859e-4
allele num: 7824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14734
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.749769e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

FS
type: SiteQuality
SIO_000300: 4.755e0

MQ
type: SiteQuality
SIO_000300: 5.222e1

QD
type: SiteQuality
SIO_000300: 2.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.665e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeQuality
all individuals: 1324
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7976
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8335
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14734
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.222e1

FS
type: SiteQuality
SIO_000300: 4.755e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 1.749769e6

MQRankSum
type: SiteQuality
SIO_000300: -1.665e0

QD
type: SiteQuality
SIO_000300: 2.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25878
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1324
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1622
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 380
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 434
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8335
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 41
allele frequency: 4.505494505494505e-3
allele num: 9100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.647826516824309e-5
allele num: 60686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14734
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.352787130564908e-5
allele num: 10692
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 1.749769e6

FS
type: SiteQuality
SIO_000300: 4.755e0

QD
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 5.222e1

MQRankSum
type: SiteQuality
SIO_000300: -1.665e0

GenotypeQuality
all individuals: 1000
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 572
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 768
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25878
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1622
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7976
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.295653033648617e-5
allele num: 60686
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.665e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 5.222e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 4.755e0

DP
type: SiteQuality
SIO_000300: 1.749769e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

QD
type: SiteQuality
SIO_000300: 2.77e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14734
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

QD
type: SiteQuality
SIO_000300: 2.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

DP
type: SiteQuality
SIO_000300: 1.749769e6

MQ
type: SiteQuality
SIO_000300: 5.222e1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

FS
type: SiteQuality
SIO_000300: 4.755e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.665e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

GenotypeQuality
all individuals: 1469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1582
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5210
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11015
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21689
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 758
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 3.25e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14320
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.130710085933967e-4
allele num: 8844
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.082333807684488e-5
allele num: 59028
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 4.011767852366943e-4
allele num: 7478
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.27e0

MQ
type: SiteQuality
SIO_000300: 5.367e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.344e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.494e0

FS
type: SiteQuality
SIO_000300: 2.312e0

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.033e0

DP
type: SiteQuality
SIO_000300: 1.623282e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

GenotypeQuality
all individuals: 335
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2478
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11194
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 944
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.898454746136865e-5
allele num: 14496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8986
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.33e0

QD
type: SiteQuality
SIO_000300: 1.406e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

MQ
type: SiteQuality
SIO_000300: 5.327e1

VQSLOD
type: SiteQuality
SIO_000300: -1.462e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

DP
type: SiteQuality
SIO_000300: 1.575942e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

GenotypeQuality
all individuals: 1664
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 833
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1269
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1752
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 3035
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1372
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2556
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1272
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 22048
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.624296962879641e-4
allele num: 12446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.79856739743868e-4
allele num: 55284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.391200382592061e-4
allele num: 8364
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.849002849002849e-4
allele num: 7020
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

FS
type: SiteQuality
SIO_000300: 3.208e0

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.542402e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.27e-2

QD
type: SiteQuality
SIO_000300: 6.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.326e1

GenotypeQuality
all individuals: 3035
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11759
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3453
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 932
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 808
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1372
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3926
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 833
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1330
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 2
allele frequency: 2.391200382592061e-4
allele num: 8364
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.06782464846981e-4
allele num: 9672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 3.436799073873092e-4
allele num: 55284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12446
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.424501424501424e-4
allele num: 7020
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.326e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.27e-2

QD
type: SiteQuality
SIO_000300: 6.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

FS
type: SiteQuality
SIO_000300: 3.208e0

DP
type: SiteQuality
SIO_000300: 1.542402e6

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 9.305210918114144e-4
allele num: 9672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7020
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.27e-2

FS
type: SiteQuality
SIO_000300: 3.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

MQ
type: SiteQuality
SIO_000300: 5.326e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 1.542402e6

QD
type: SiteQuality
SIO_000300: 6.06e0

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

GenotypeQuality
all individuals: 1330
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 808
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3035
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11759
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22048
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55284
num of homozygotes: 0

Other
type: Population
allele count: 0
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South Asian
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allele frequency: 8.034709946970914e-5
allele num: 12446
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
type: SiteQuality
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MQ
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QD
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ClippingRankSum
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SIO_000300: -7.199999999999999e-2

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

South Asian
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allele frequency: 7.987220447284345e-5
allele num: 12520
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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QD
type: SiteQuality
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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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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African
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allele num: 9152
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10408
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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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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African
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allele frequency: 1.119068934646374e-4
allele num: 8936
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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InbreedingCoeff
type: SiteQuality
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 4.0e-1

MQ
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SIO_000300: 5.313e1

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

South Asian
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allele frequency: 0.0e0
allele num: 13920
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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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 9.984025559105431e-5
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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QD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
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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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East Asian
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European (Non-Finnish)
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allele num: 57434
num of homozygotes: 0

South Asian
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Other
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African
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allele num: 8864
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Latino
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

East Asian
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African
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allele num: 8724
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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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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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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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Other
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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QD
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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Other
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Latino
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African
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East Asian
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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VQSLOD
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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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bin: 3.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.906941266209001e-5
allele num: 52440
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6706
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9194
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South Asian
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allele frequency: 0.0e0
allele num: 11956
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

VQSLOD
type: SiteQuality
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QD
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FS
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

MQ
type: SiteQuality
SIO_000300: 5.243e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8730
num of homozygotes: 0

European (Finnish)
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: 738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50156
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.963786303334529e-5
allele num: 11156
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
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FS
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QD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.18e-2

MQ
type: SiteQuality
SIO_000300: 4.637e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-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
all individuals: 209
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variant carriers: 0

Latino
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allele count: 5
allele frequency: 5.759041695461875e-4
allele num: 8682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.00288415318058e-5
allele num: 49928
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.269680040629761e-4
allele num: 7876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

ReadPosRankSum
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.073e0

DP
type: SiteQuality
SIO_000300: 9.66169e5

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.344e1

QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.787781350482316e-4
allele num: 15550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 1.438e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.633e0

DP
type: SiteQuality
SIO_000300: 3.585618e6

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

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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GenotypeQuality
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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: 801
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GenotypeQuality
all individuals: 1868
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 10
allele frequency: 6.40861317610869e-4
allele num: 15604
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.239e0

DP
type: SiteQuality
SIO_000300: 3.587363e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.666e0

QD
type: SiteQuality
SIO_000300: 1.635e1

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.35e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-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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variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.955401387512388e-4
allele num: 10090
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: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.542e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.78e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506069459923492e-5
allele num: 66398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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: 8652
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.682e0

VQSLOD
type: SiteQuality
SIO_000300: 6.919999999999999e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.21e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 3.618707e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.373e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-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
all individuals: 91
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.525813540443722e-5
allele num: 66438
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.7359900373599e-4
allele num: 16060
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
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African
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allele count: 1
allele frequency: 9.838646202282565e-5
allele num: 10164
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.711e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 3.618707e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.25e1
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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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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.443e0

QD
type: SiteQuality
SIO_000300: 1.6e1

MQRankSum
type: SiteQuality
SIO_000300: -8.55e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 3.620956e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: -8.277e-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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bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.513721714010592e-5
allele num: 66464
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.621306e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.234e0

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.278e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.204e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
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: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.28e-1

FS
type: SiteQuality
SIO_000300: 1.402e0

DP
type: SiteQuality
SIO_000300: 3.622986e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: -1.089e0

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.184e1

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

DP
type: SiteQuality
SIO_000300: 3.624419e6

MQ
type: SiteQuality
SIO_000300: 5.79e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -9.976e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.08e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 20
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
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: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

DP
type: SiteQuality
SIO_000300: 3.629616e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.324e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

QD
type: SiteQuality
SIO_000300: 1.189e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.19e-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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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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bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.715e0

DP
type: SiteQuality
SIO_000300: 3.629508e6

MQRankSum
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SIO_000300: -1.526e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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

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

DP
type: SiteQuality
SIO_000300: 3.629483e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.88e1

FS
type: SiteQuality
SIO_000300: 1.626e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
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allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10180
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
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

FS
type: SiteQuality
SIO_000300: 6.531e0

DP
type: SiteQuality
SIO_000300: 3.628921e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

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
all individuals: 1541
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variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

South Asian
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.741e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.187e1

DP
type: SiteQuality
SIO_000300: 3.628874e6

FS
type: SiteQuality
SIO_000300: 1.129e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 258
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016500256402522e-5
allele num: 66302
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 3.609365e6

VQSLOD
type: SiteQuality
SIO_000300: -1.691e0

QD
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.207e0

FS
type: SiteQuality
SIO_000300: 1.647e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 1.647e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: -1.691e0

DP
type: SiteQuality
SIO_000300: 3.609365e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4