1-40033151-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033151
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033151
    reference: chr 1
allele count: 1
allele frequency: 8.873114463176575e-6
allele num: 112700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+272C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+272C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+272C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000201457
  ensembl transcript: ENST00000364587
  gene symbol: SNORA55
  hgvsc: ENST00000364587.1:n.30C>G
  variant of: http://identifiers.org/hgnc/32649
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+272C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2260G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+272C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+272C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+272C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+272C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+272C>G
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-40033160-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033160
    reference: chr 1
allele count: 132
allele frequency: 1.171313468330168e-3
allele num: 112694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+263C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000201457
  ensembl transcript: ENST00000364587
  gene symbol: SNORA55
  hgvsc: ENST00000364587.1:n.21C>T
  variant of: http://identifiers.org/hgnc/32649
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2269G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+263C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+263C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+263C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+263C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+263C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+263C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+263C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+263C>T
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 17574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20001
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

1-40033167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033167
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033167
    reference: chr 1
allele count: 4
allele frequency: 3.548867911136347e-5
allele num: 112712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+256T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+256T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+256T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+256T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000201457
  ensembl transcript: ENST00000364587
  gene symbol: SNORA55
  hgvsc: ENST00000364587.1:n.14T>C
  variant of: http://identifiers.org/hgnc/32649
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+256T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2276A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+256T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+256T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+256T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+256T>C
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-40033173-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033173
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033173
    reference: chr 1
allele count: 1
allele frequency: 8.873901854645487e-6
allele num: 112690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+250A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+250A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+250A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+250A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2282T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+250A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000201457
  ensembl transcript: ENST00000364587
  gene symbol: SNORA55
  hgvsc: ENST00000364587.1:n.8A>G
  variant of: http://identifiers.org/hgnc/32649
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+250A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+250A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+250A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+250A>G
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

1-40033184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033184
    reference: chr 1
allele count: 1
allele frequency: 8.875319511502414e-6
allele num: 112672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+239C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+239C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+239C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+239C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2293G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+239C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+239C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+239C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+239C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+239C>T
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

1-40033194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033194
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033194
    reference: chr 1
allele count: 1
allele frequency: 8.873586881289154e-6
allele num: 112694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+229C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+229C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+229C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+229C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+229C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+229C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+229C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+229C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2303G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+229C>T
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8300
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

1-40033194-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033194
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033194
    reference: chr 1
allele count: 1
allele frequency: 8.873586881289154e-6
allele num: 112694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+229C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+229C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+229C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+229C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+229C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2303G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+229C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+229C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+229C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+229C>G
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28347
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/1-40033196-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033196
    reference: chr 1
allele count: 7
allele frequency: 6.211180124223603e-5
allele num: 112700
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+227T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+227T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+227T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+227T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+227T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2305A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+227T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+227T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+227T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+227T>G
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-40033197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033197
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033197
    reference: chr 1
allele count: 1
allele frequency: 8.872957001650369e-6
allele num: 112702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+226C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+226C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2306G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+226C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+226C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+226C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+226C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+226C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+226C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+226C>T
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/1-40033213-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033213
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033213
    reference: chr 1
allele count: 2
allele frequency: 1.774056202100482e-5
allele num: 112736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+210G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+210G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+210G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2322C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+210G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+210G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+210G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+210G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+210G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+210G>T
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-40033220-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033220
    reference: chr 1
allele count: 1
allele frequency: 8.867606632969762e-6
allele num: 112770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+203T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+203T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+203T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+203T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+203T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+203T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+203T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+203T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+203T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2329A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

1-40033374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033374
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033374
    reference: chr 1
allele count: 3
allele frequency: 2.526400889293113e-5
allele num: 118746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2483C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+49G>A
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-40033382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033382
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033382
    reference: chr 1
allele count: 2
allele frequency: 1.679204728640516e-5
allele num: 119104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+41C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+41C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+41C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+41C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+41C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+41C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+41C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2491G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+41C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+41C>T
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-40033386-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033387
    reference: chr 1
allele count: 1
allele frequency: 8.388980235562565e-6
allele num: 119204
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+36dupT
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+36dupT
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+36dupT
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+36dupT
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+36dupT
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+36dupT
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+36dupT
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+36dupT
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2496dupA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+36dupT
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23419
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-40033388-C-CCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033388
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033390
    reference: chr 1
allele count: 1
allele frequency: 8.39545973537511e-6
allele num: 119112
alternate allele: CCA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+33_*602+34dupTG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+33_152+34dupTG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+33_972+34dupTG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2499_60+2500dupAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+33_151+34dupTG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+33_677+34dupTG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+33_972+34dupTG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+33_972+34dupTG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+33_658+34dupTG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+33_972+34dupTG
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-40033390-ACTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033390
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033387
    reference: chr 1
allele count: 4
allele frequency: 3.35345405767941e-5
allele num: 119280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+30_677+32delCAG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2502_60+2504delGCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+30_972+32delCAG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+30_972+32delCAG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+30_972+32delCAG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+30_658+32delCAG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+30_972+32delCAG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+30_*602+32delCAG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+30_151+32delCAG
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+30_152+32delCAG
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18968
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: ACTG
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-40033392-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033392
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033392
    reference: chr 1
allele count: 1
allele frequency: 8.379279717115517e-6
allele num: 119342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+31A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+31A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2501T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+31A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+31A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+31A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+31A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+31A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+31A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+31A>T
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19424
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-40033399-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033399
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033399
    reference: chr 1
allele count: 1
allele frequency: 8.363022061652199e-6
allele num: 119574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+24T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2508A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+24T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+24T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+24T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+24T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+24T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+24T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+24T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+24T>G
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42312
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-40033406-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033406
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033407
    reference: chr 1
allele count: 3
allele frequency: 2.503755633450175e-5
allele num: 119820
alternate allele: AG
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2516dupG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+16dupC
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+16dupC
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+16dupC
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+16dupC
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+16dupC
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+16dupC
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+16dupC
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+16dupC
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+16dupC
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24743
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-40033411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033411
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033411
    reference: chr 1
allele count: 4
allele frequency: 3.334556003868085e-5
allele num: 119956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+12C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+12C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+12C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+12C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+12C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2520G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+12C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+12C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+12C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+12C>T
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

1-40033411-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033411
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033411
    reference: chr 1
allele count: 1
allele frequency: 8.336390009670212e-6
allele num: 119956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+12C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+12C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+12C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+12C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+12C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+12C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+12C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+12C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2520G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+12C>G
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-40033414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033414
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033414
    reference: chr 1
allele count: 1
allele frequency: 8.321959988016378e-6
allele num: 120164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+9C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2523G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+9C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+9C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+9C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+9C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+9C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+9C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+9C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+9C>T
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-40033419-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033419
    reference: chr 1
allele count: 2
allele frequency: 1.662151156026129e-5
allele num: 120326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+4T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+4T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+4T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+4T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+4T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+4T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+4T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+4T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+4T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2528A>C
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21863
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: c.972+4T>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-40033420-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033420
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033420
    reference: chr 1
allele count: 2
allele frequency: 1.661764461505226e-5
allele num: 120354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.151+3A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.972+3A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.658+3A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.972+3A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.972+3A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.677+3A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*602+3A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2529T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.152+3A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.972+3A>G
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21935
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
hgvs: c.972+3A>G
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

1-40033437-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033437
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033437
    reference: chr 1
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.137A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2546T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.958A>G
  hgvsp: ENSP00000361949.3:p.Ile320Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.958A>G
  hgvsp: ENSP00000361948.3:p.Ile320Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.958A>G
  hgvsp: ENSP00000361947.3:p.Ile320Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*588A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.958A>G
  hgvsp: ENSP00000361953.3:p.Ile320Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.138A>G
  hgvsp: ENSP00000436566.1:p.Ile47Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.663A>G
  hgvsp: ENSP00000398267.2:p.Ile222Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.644A>G
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile320Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-40033438-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033438
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033438
    reference: chr 1
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.957A>G
  hgvsp: ENST00000372857.3:c.957A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.957A>G
  hgvsp: ENST00000372862.3:c.957A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*587A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.136A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.643A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.137A>G
  hgvsp: ENST00000527718.1:c.137A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.957A>G
  hgvsp: ENST00000372858.3:c.957A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.957A>G
  hgvsp: ENST00000372856.3:c.957A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.662A>G
  hgvsp: ENST00000421687.2:c.662A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2547T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser319Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

1-40033451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033451
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033451
    reference: chr 1
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.124C>T
  hgvsp: ENSP00000436566.1:p.Ser42Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.630C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.649C>T
  hgvsp: ENSP00000398267.2:p.Ser217Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.944C>T
  hgvsp: ENSP00000361948.3:p.Ser315Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.944C>T
  hgvsp: ENSP00000361947.3:p.Ser315Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.944C>T
  hgvsp: ENSP00000361949.3:p.Ser315Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.944C>T
  hgvsp: ENSP00000361953.3:p.Ser315Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*574C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.123C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2560G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser315Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-40033459-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033459
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033459
    reference: chr 1
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.115A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.116A>G
  hgvsp: ENST00000527718.1:c.116A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.936A>G
  hgvsp: ENST00000372862.3:c.936A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*566A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.936A>G
  hgvsp: ENST00000372856.3:c.936A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2568T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.936A>G
  hgvsp: ENST00000372858.3:c.936A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.641A>G
  hgvsp: ENST00000421687.2:c.641A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.622A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.936A>G
  hgvsp: ENST00000372857.3:c.936A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys312Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-40033460-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033460
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033460
    reference: chr 1
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.935A>T
  hgvsp: ENSP00000361953.3:p.Lys312Ile
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.114A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.935A>T
  hgvsp: ENSP00000361949.3:p.Lys312Ile
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.115A>T
  hgvsp: ENSP00000436566.1:p.Lys39Ile
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*565A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.935A>T
  hgvsp: ENSP00000361947.3:p.Lys312Ile
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.935A>T
  hgvsp: ENSP00000361948.3:p.Lys312Ile
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.640A>T
  hgvsp: ENSP00000398267.2:p.Lys214Ile
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2569T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.621A>T
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys312Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD

1-40033501-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033501
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033501
    reference: chr 1
allele count: 4
allele frequency: 3.320328712542542e-5
allele num: 120470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.894T>C
  hgvsp: ENST00000372856.3:c.894T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.894T>C
  hgvsp: ENST00000372862.3:c.894T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.894T>C
  hgvsp: ENST00000372857.3:c.894T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*524T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.74T>C
  hgvsp: ENST00000527718.1:c.74T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2610A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.894T>C
  hgvsp: ENST00000372858.3:c.894T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.599T>C
  hgvsp: ENST00000421687.2:c.599T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.73T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.580T>C
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile298Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-40033503-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033503
    reference: chr 1
allele count: 2
allele frequency: 1.661239949498306e-5
allele num: 120392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2612T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.892A>G
  hgvsp: ENSP00000361953.3:p.Ile298Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.892A>G
  hgvsp: ENSP00000361948.3:p.Ile298Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.72A>G
  hgvsp: ENSP00000436566.1:p.Ile25Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.597A>G
  hgvsp: ENSP00000398267.2:p.Ile200Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.892A>G
  hgvsp: ENSP00000361949.3:p.Ile298Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.892A>G
  hgvsp: ENSP00000361947.3:p.Ile298Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.71A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*522A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.578A>G
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25992
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21566
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile298Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

1-40033513-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033513
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033513
    reference: chr 1
allele count: 1
allele frequency: 8.380122349786308e-6
allele num: 119330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.568G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.587G>A
  hgvsp: ENST00000421687.2:c.587G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.882G>A
  hgvsp: ENST00000372858.3:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2622C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*512G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.882G>A
  hgvsp: ENST00000372857.3:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.882G>A
  hgvsp: ENST00000372856.3:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.882G>A
  hgvsp: ENST00000372862.3:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.62G>A
  hgvsp: ENST00000527718.1:c.62G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.61G>A
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25625
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val294Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-40033521-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033521
    reference: chr 1
allele count: 1
allele frequency: 8.511507558218711e-6
allele num: 117488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-3C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-3C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-3C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-3C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-3C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-3C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-3C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.60+2630G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.560C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-3C>A
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
hgvs: c.877-3C>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-40033524-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033524
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033524
    reference: chr 1
allele count: 1
allele frequency: 8.529221111528095e-6
allele num: 117244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-6C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-6C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-6C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-2628G>C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-6C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-6C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.557C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-6C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-6C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-6C>G
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
hgvs: c.877-6C>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-40033531-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033531
    reference: chr 1
allele count: 1
allele frequency: 8.675133597057395e-6
allele num: 115272
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-13C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-2621G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-13C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-13C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-13C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-13C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-13C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-13C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.550C>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-13C>G
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21792
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-40033532-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033532
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033532
    reference: chr 1
allele count: 1
allele frequency: 8.71064964025017e-6
allele num: 114802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-14T>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-14T>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.549T>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-14T>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-14T>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-14T>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-14T>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-14T>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-2620A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-14T>A
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-40033540-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033540
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033540
    reference: chr 1
allele count: 3
allele frequency: 2.655854388356734e-5
allele num: 112958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-22A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-22A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-2612T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-22A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-22A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.541A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-22A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-22A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-22A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-22A>G
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16291
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16386
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

1-40033544-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033544
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033544
    reference: chr 1
allele count: 3
allele frequency: 2.683555173894375e-5
allele num: 111792
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-26A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-26A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-26A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-26A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.537A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-26A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-2608T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-26A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-26A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-26A>G
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13125
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

1-40033544-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033544
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033544
    reference: chr 1
allele count: 1
allele frequency: 8.945183912981251e-6
allele num: 111792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-26A>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-2608T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-26A>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-26A>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-26A>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-26A>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-26A>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-26A>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-26A>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.537A>C
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13125
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6722
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-40033548-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033548
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033548
    reference: chr 1
allele count: 1
allele frequency: 9.003817618670317e-6
allele num: 111064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.533G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-30G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-2604C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-30G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-30G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-30G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-30G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-30G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-30G>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-30G>T
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-40033548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033548
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033548
    reference: chr 1
allele count: 1
allele frequency: 9.003817618670317e-6
allele num: 111064
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-2604C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-30G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-30G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.533G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-30G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-30G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-30G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-30G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-30G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-30G>A
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17279
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-40033556-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033556
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033556
    reference: chr 1
allele count: 1
allele frequency: 9.271277582050807e-6
allele num: 107860
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-2596T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-38A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.525A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-38A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-38A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-38A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-38A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-38A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-38A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-38A>G
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20441
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5792
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

1-40033563-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033563
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033563
    reference: chr 1
allele count: 2
allele frequency: 1.906832179699865e-5
allele num: 104886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-45A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-45A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-45A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-2589T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-45A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-45A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-45A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.518A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-45A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-45A>T
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16504
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19526
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-40033567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033567
    reference: chr 1
allele count: 1
allele frequency: 9.797198001371608e-6
allele num: 102070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-2585C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.514G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-49G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-49G>A
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16337
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-40033568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40033568
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40033568
    reference: chr 1
allele count: 149
allele frequency: 1.469051328061838e-3
allele num: 101426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.877-50G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.582-50G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000513632
  gene symbol: PABPC4
  hgvsc: ENST00000513632.2:n.513G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*507-50G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.877-50G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.877-50G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-2584C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.56-50G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.877-50G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.57-50G>A
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18927
  bin: 1.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 2.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16292
  bin: 1.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7584
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/1-40034445-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034445
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034445
    reference: chr 1
allele count: 8
allele frequency: 6.661670413856274e-5
allele num: 120090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.55+29T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*506+29T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1707A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.56+29T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.876+29T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.581+29T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.481T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.876+29T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.876+29T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.876+29T>G
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9646
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

1-40034448-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034448
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034448
    reference: chr 1
allele count: 1
allele frequency: 8.325978718798394e-6
allele num: 120106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.876+26C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.478C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.55+26C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*506+26C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.876+26C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1704G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.876+26C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.56+26C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.581+26C>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.876+26C>A
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

1-40034451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034451
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034451
    reference: chr 1
allele count: 3
allele frequency: 2.494678020223523e-5
allele num: 120256
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.876+23T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.876+23T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.581+23T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1701A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.55+23T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*506+23T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.876+23T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.56+23T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.475T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.876+23T>C
  variant of: http://identifiers.org/hgnc/8557
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49972
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

1-40034468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034468
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034468
    reference: chr 1
allele count: 4
allele frequency: 3.307315782510914e-5
allele num: 120944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.876+6G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.581+6G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.55+6G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1684C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.876+6G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.56+6G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*506+6G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.458G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.876+6G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.876+6G>A
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
hgvs: c.876+6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-40034479-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034479
    reference: chr 1
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.447T>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.871T>A
  hgvsp: ENSP00000361948.3:p.Tyr291Asn
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.871T>A
  hgvsp: ENSP00000361953.3:p.Tyr291Asn
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*501T>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.50T>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.51T>A
  hgvsp: ENSP00000436566.1:p.Tyr18Asn
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.871T>A
  hgvsp: ENSP00000361949.3:p.Tyr291Asn
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.871T>A
  hgvsp: ENSP00000361947.3:p.Tyr291Asn
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1673A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.576T>A
  hgvsp: ENSP00000398267.2:p.Tyr193Asn
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr291Asn
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-40034480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034480
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034480
    reference: chr 1
allele count: 7
allele frequency: 5.775577557755776e-5
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.49A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*500A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.50A>G
  hgvsp: ENST00000527718.1:c.50A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.870A>G
  hgvsp: ENST00000372856.3:c.870A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.870A>G
  hgvsp: ENST00000372858.3:c.870A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.446A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.575A>G
  hgvsp: ENST00000421687.2:c.575A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.870A>G
  hgvsp: ENST00000372862.3:c.870A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.870A>G
  hgvsp: ENST00000372857.3:c.870A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1672T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg290Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-40034480-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034480
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034480
    reference: chr 1
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.870A>T
  hgvsp: ENST00000372858.3:c.870A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.870A>T
  hgvsp: ENST00000372862.3:c.870A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.575A>T
  hgvsp: ENST00000421687.2:c.575A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.49A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.446A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.870A>T
  hgvsp: ENST00000372857.3:c.870A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.50A>T
  hgvsp: ENST00000527718.1:c.50A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.870A>T
  hgvsp: ENST00000372856.3:c.870A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*500A>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1672T>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg290Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

1-40034481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034481
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034481
    reference: chr 1
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.869G>A
  hgvsp: ENSP00000361947.3:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.48G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.445G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1671C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.574G>A
  hgvsp: ENSP00000398267.2:p.Arg192Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.49G>A
  hgvsp: ENSP00000436566.1:p.Arg17Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.869G>A
  hgvsp: ENSP00000361948.3:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.869G>A
  hgvsp: ENSP00000361949.3:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.869G>A
  hgvsp: ENSP00000361953.3:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*499G>A
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg290Gln
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: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-40034501-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034501
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034501
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.587G>C
  hgvsp: ENSP00000431383.1:p.Leu196Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.29G>C
  hgvsp: ENSP00000436566.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.849G>C
  hgvsp: ENSP00000361947.3:p.Leu283Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*479G>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.849G>C
  hgvsp: ENSP00000361948.3:p.Leu283Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.849G>C
  hgvsp: ENSP00000361949.3:p.Leu283Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.849G>C
  hgvsp: ENSP00000361953.3:p.Leu283Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.554G>C
  hgvsp: ENSP00000398267.2:p.Leu185Phe
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.425G>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.28G>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1651C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu283Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-40034505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034505
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034505
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.845A>G
  hgvsp: ENSP00000361948.3:p.Gln282Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.25A>G
  hgvsp: ENSP00000436566.1:p.Gln9Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.583A>G
  hgvsp: ENSP00000431383.1:p.Gln195Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*475A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.845A>G
  hgvsp: ENSP00000361953.3:p.Gln282Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.845A>G
  hgvsp: ENSP00000361947.3:p.Gln282Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.845A>G
  hgvsp: ENSP00000361949.3:p.Gln282Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.24A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.421A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1647T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.550A>G
  hgvsp: ENSP00000398267.2:p.Gln184Arg
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9624
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln282Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

1-40034517-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034517
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034517
    reference: chr 1
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.13G>A
  hgvsp: ENSP00000436566.1:p.Arg5Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*463G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.833G>A
  hgvsp: ENSP00000361953.3:p.Arg278Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.833G>A
  hgvsp: ENSP00000361947.3:p.Arg278Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.833G>A
  hgvsp: ENSP00000361948.3:p.Arg278Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.833G>A
  hgvsp: ENSP00000361949.3:p.Arg278Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.538G>A
  hgvsp: ENSP00000398267.2:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1635C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.409G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.571G>A
  hgvsp: ENSP00000431383.1:p.Arg191Gln
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.12G>A
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9623
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg278Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-40034528-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034528
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034528
    reference: chr 1
allele count: 12
allele frequency: 9.884841595413434e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.398A>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.822A>C
  hgvsp: ENST00000372856.3:c.822A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.822A>C
  hgvsp: ENST00000372858.3:c.822A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.527A>C
  hgvsp: ENST00000421687.2:c.527A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.560A>C
  hgvsp: ENST00000474378.1:c.560A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1624T>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.822A>C
  hgvsp: ENST00000372862.3:c.822A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525669
  gene symbol: PABPC4
  hgvsc: ENST00000525669.1:n.1A>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*452A>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436566
  ensembl transcript: ENST00000527718
  gene symbol: PABPC4
  hgvsc: ENST00000527718.1:c.2A>C
  hgvsp: ENST00000527718.1:c.2A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.822A>C
  hgvsp: ENST00000372857.3:c.822A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala274Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-40034536-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034536
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034536
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*444C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.814C>T
  hgvsp: ENSP00000361953.3:p.Arg272Trp
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.390C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.519C>T
  hgvsp: ENSP00000398267.2:p.Arg174Trp
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1616G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.814C>T
  hgvsp: ENSP00000361948.3:p.Arg272Trp
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.814C>T
  hgvsp: ENSP00000361947.3:p.Arg272Trp
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000529216
  gene symbol: PABPC4
  hgvsc: ENST00000529216.1:n.315C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.814C>T
  hgvsp: ENSP00000361949.3:p.Arg272Trp
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.552C>T
  hgvsp: ENSP00000431383.1:p.Arg185Trp
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9582
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg272Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-40034537-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034537
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034537
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.551A>G
  hgvsp: ENST00000474378.1:c.551A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.813A>G
  hgvsp: ENST00000372858.3:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*443A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.813A>G
  hgvsp: ENST00000372862.3:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.518A>G
  hgvsp: ENST00000421687.2:c.518A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000529216
  gene symbol: PABPC4
  hgvsc: ENST00000529216.1:n.314A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.389A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1615T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.813A>G
  hgvsp: ENST00000372857.3:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.813A>G
  hgvsp: ENST00000372856.3:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu271Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-40034547-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034547
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034547
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.379A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.803A>G
  hgvsp: ENSP00000361947.3:p.Lys268Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*433A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.508A>G
  hgvsp: ENSP00000398267.2:p.Lys170Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000529216
  gene symbol: PABPC4
  hgvsc: ENST00000529216.1:n.304A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.541A>G
  hgvsp: ENSP00000431383.1:p.Lys181Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.803A>G
  hgvsp: ENSP00000361949.3:p.Lys268Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.803A>G
  hgvsp: ENSP00000361953.3:p.Lys268Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.803A>G
  hgvsp: ENSP00000361948.3:p.Lys268Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1605T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys268Arg
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-40034552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034552
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034552
    reference: chr 1
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.798A>G
  hgvsp: ENST00000372856.3:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.798A>G
  hgvsp: ENST00000372862.3:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1600T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.503A>G
  hgvsp: ENST00000421687.2:c.503A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.798A>G
  hgvsp: ENST00000372857.3:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.798A>G
  hgvsp: ENST00000372858.3:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.374A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000529216
  gene symbol: PABPC4
  hgvsc: ENST00000529216.1:n.299A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*428A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.536A>G
  hgvsp: ENST00000474378.1:c.536A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala266Ala
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

1-40034556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034556
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034556
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.794G>A
  hgvsp: ENSP00000361953.3:p.Arg265His
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1596C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.794G>A
  hgvsp: ENSP00000361948.3:p.Arg265His
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.532G>A
  hgvsp: ENSP00000431383.1:p.Arg178His
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000529216
  gene symbol: PABPC4
  hgvsc: ENST00000529216.1:n.295G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.499G>A
  hgvsp: ENSP00000398267.2:p.Arg167His
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.794G>A
  hgvsp: ENSP00000361949.3:p.Arg265His
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.370G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*424G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.794G>A
  hgvsp: ENSP00000361947.3:p.Arg265His
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg265His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

1-40034558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034558
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034558
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.792C>T
  hgvsp: ENST00000372862.3:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1594G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.530C>T
  hgvsp: ENST00000474378.1:c.530C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.497C>T
  hgvsp: ENST00000421687.2:c.497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.792C>T
  hgvsp: ENST00000372856.3:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.792C>T
  hgvsp: ENST00000372857.3:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.792C>T
  hgvsp: ENST00000372858.3:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.368C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*422C>T
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000529216
  gene symbol: PABPC4
  hgvsc: ENST00000529216.1:n.293C>T
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly264Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

1-40034563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034563
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034563
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.787G>A
  hgvsp: ENSP00000361953.3:p.Val263Ile
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.492G>A
  hgvsp: ENSP00000398267.2:p.Val165Ile
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000529216
  gene symbol: PABPC4
  hgvsc: ENST00000529216.1:n.288G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.787G>A
  hgvsp: ENSP00000361947.3:p.Val263Ile
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.525G>A
  hgvsp: ENSP00000431383.1:p.Val176Ile
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.787G>A
  hgvsp: ENSP00000361948.3:p.Val263Ile
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.787G>A
  hgvsp: ENSP00000361949.3:p.Val263Ile
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1589C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*417G>A
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.363G>A
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val263Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-40034569-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034569
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034569
    reference: chr 1
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000529216
  gene symbol: PABPC4
  hgvsc: ENST00000529216.1:n.282A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.519A>G
  hgvsp: ENSP00000431383.1:p.Ile174Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.781A>G
  hgvsp: ENSP00000361953.3:p.Ile261Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.781A>G
  hgvsp: ENSP00000361948.3:p.Ile261Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.486A>G
  hgvsp: ENSP00000398267.2:p.Ile163Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.781A>G
  hgvsp: ENSP00000361949.3:p.Ile261Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*411A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.781A>G
  hgvsp: ENSP00000361947.3:p.Ile261Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.357A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1583T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile261Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: FS

1-40034572-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034572
    reference: chr 1
allele count: 18
allele frequency: 1.482726239312015e-4
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.483A>G
  hgvsp: ENSP00000398267.2:p.Ile162Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*408A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1580T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.778A>G
  hgvsp: ENSP00000361949.3:p.Ile260Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.516A>G
  hgvsp: ENSP00000431383.1:p.Ile173Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.354A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.778A>G
  hgvsp: ENSP00000361953.3:p.Ile260Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000529216
  gene symbol: PABPC4
  hgvsc: ENST00000529216.1:n.279A>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.778A>G
  hgvsp: ENSP00000361947.3:p.Ile260Val
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.778A>G
  hgvsp: ENSP00000361948.3:p.Ile260Val
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile260Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-40034579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034579
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034579
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.771T>C
  hgvsp: ENST00000372856.3:c.771T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*401T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.476T>C
  hgvsp: ENST00000421687.2:c.476T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.771T>C
  hgvsp: ENST00000372858.3:c.771T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.509T>C
  hgvsp: ENST00000474378.1:c.509T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1573A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.771T>C
  hgvsp: ENST00000372857.3:c.771T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000529216
  gene symbol: PABPC4
  hgvsc: ENST00000529216.1:n.272T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.771T>C
  hgvsp: ENST00000372862.3:c.771T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.347T>C
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9570
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser257Ser
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: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-40034583-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034583
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034583
    reference: chr 1
allele count: 4
allele frequency: 3.295707341188102e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.767T>G
  hgvsp: ENSP00000361948.3:p.Ile256Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000529216
  gene symbol: PABPC4
  hgvsc: ENST00000529216.1:n.268T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.472T>G
  hgvsp: ENSP00000398267.2:p.Ile158Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.505T>G
  hgvsp: ENSP00000431383.1:p.Ile169Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1569A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.767T>G
  hgvsp: ENSP00000361953.3:p.Ile256Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.767T>G
  hgvsp: ENSP00000361947.3:p.Ile256Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.767T>G
  hgvsp: ENSP00000361949.3:p.Ile256Arg
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*397T>G
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.343T>G
  variant of: http://identifiers.org/hgnc/8557
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile256Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-40034609-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40034609
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40034609
    reference: chr 1
allele count: 9
allele frequency: 7.442445091293993e-5
allele num: 120928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000529216
  gene symbol: PABPC4
  hgvsc: ENST00000529216.1:n.242T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000436391
  ensembl transcript: ENST00000470443
  gene symbol: PABPC4
  hgvsc: ENST00000470443.1:c.*371T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000431383
  ensembl transcript: ENST00000474378
  gene symbol: PABPC4
  hgvsc: ENST00000474378.1:c.479T>C
  hgvsp: ENST00000474378.1:c.479T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361948
  ensembl transcript: ENST00000372857
  gene symbol: PABPC4
  hgvsc: ENST00000372857.3:c.741T>C
  hgvsp: ENST00000372857.3:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361953
  ensembl transcript: ENST00000372862
  gene symbol: PABPC4
  hgvsc: ENST00000372862.3:c.741T>C
  hgvsp: ENST00000372862.3:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361947
  ensembl transcript: ENST00000372856
  gene symbol: PABPC4
  hgvsc: ENST00000372856.3:c.741T>C
  hgvsp: ENST00000372856.3:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090621
  ensembl transcript: ENST00000525751
  gene symbol: PABPC4
  hgvsc: ENST00000525751.1:n.317T>C
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000398267
  ensembl transcript: ENST00000421687
  gene symbol: PABPC4
  hgvsc: ENST00000421687.2:c.446T>C
  hgvsp: ENST00000421687.2:c.446T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000090621
  ensembl protein: ENSP00000361949
  ensembl transcript: ENST00000372858
  gene symbol: PABPC4
  hgvsc: ENST00000372858.3:c.741T>C
  hgvsp: ENST00000372858.3:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8557
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228060
  ensembl transcript: ENST00000415255
  gene symbol: RP11-69E11.8
  hgvsc: ENST00000415255.1:n.61-1543A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9565
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 7.75e1
  variant carriers: 0
hgvs: c.741T>C
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 550
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3799
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4164
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.174364040503828e-5
allele num: 16196
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61396
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

DP
type: SiteQuality
SIO_000300: 1.617407e6

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: -2.492e0

MQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

FS
type: SiteQuality
SIO_000300: 2.707e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

QD
type: SiteQuality
SIO_000300: 4.13e0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8518
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29988
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3786
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4287
bin: 9.75e1
variant carriers: 132

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3998
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.079027355623101e-4
allele num: 6580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 30
allele frequency: 2.64783759929391e-3
allele num: 11330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 95
allele frequency: 1.547937170044972e-3
allele num: 61372
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.673769287288758e-4
allele num: 8166
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

DP
type: SiteQuality
SIO_000300: 1.621488e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.746e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

QD
type: SiteQuality
SIO_000300: 1.107e1

GenotypeQuality
all individuals: 1149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 152
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30040
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4173
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8523
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.654080389768575e-4
allele num: 8210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.618526e6

QD
type: SiteQuality
SIO_000300: 9.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

FS
type: SiteQuality
SIO_000300: 5.827e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

GenotypeQuality
all individuals: 1366
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4170
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3779
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3998
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.178178672927221e-5
allele num: 16186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.339e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.617033e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.118e0

FS
type: SiteQuality
SIO_000300: 2.133e0

MQRankSum
type: SiteQuality
SIO_000300: -1.118e0

GenotypeQuality
all individuals: 2706
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29465
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8465
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4170
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3992
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.630044989241703e-5
allele num: 61348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 7.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.891e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

DP
type: SiteQuality
SIO_000300: 1.61478e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -1.356e0

QD
type: SiteQuality
SIO_000300: 1.195e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

GenotypeQuality
all individuals: 3727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 242
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4172
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28347
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1869
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3975
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.829242450997704e-5
allele num: 11326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

FS
type: SiteQuality
SIO_000300: 7.77e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.60687e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 7.5e0
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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
all individuals: 239
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 3727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.629779327879005e-5
allele num: 61358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

DP
type: SiteQuality
SIO_000300: 1.60687e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

FS
type: SiteQuality
SIO_000300: 7.77e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

GenotypeQuality
all individuals: 201
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.140771161305042e-4
allele num: 61362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

DP
type: SiteQuality
SIO_000300: 1.606967e6

QD
type: SiteQuality
SIO_000300: 2.391e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.34e0

FS
type: SiteQuality
SIO_000300: 4.602e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.574e0

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28435
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.629460648525338e-5
allele num: 61370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.255e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.918e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.429e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.606167e6

MQRankSum
type: SiteQuality
SIO_000300: -1.581e0

VQSLOD
type: SiteQuality
SIO_000300: -1.396e0

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeQuality
all individuals: 1341
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1935
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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: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1950
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 265
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variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.211827435773146e-4
allele num: 8252
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628399283504315e-5
allele num: 61410
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.512e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.657e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.584079e6

FS
type: SiteQuality
SIO_000300: 9.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.347e1

GenotypeQuality
all individuals: 632
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
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variant carriers: 0

GenotypeQuality
all individuals: 1895
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 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
all individuals: 7650
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variant carriers: 0

GenotypeQuality
all individuals: 23210
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.215953307392996e-4
allele num: 8224
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61450
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.719e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.55e-1

DP
type: SiteQuality
SIO_000300: 1.571434e6

QD
type: SiteQuality
SIO_000300: 8.91e0

GenotypeQuality
all individuals: 1958
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 2563
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GenotypeQuality
all individuals: 2783
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1265
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GenotypeQuality
all individuals: 247
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GenotypeQuality
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GenotypeQuality
all individuals: 1571
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65822
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15042
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e0

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

DP
type: SiteQuality
SIO_000300: 1.597274e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
all individuals: 351
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15220
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.033612425676495e-5
allele num: 65928
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.696e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

FS
type: SiteQuality
SIO_000300: 2.276e0

QD
type: SiteQuality
SIO_000300: 1.214e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.611442e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1454
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variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65978
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.617448e6

MQ
type: SiteQuality
SIO_000300: 5.73e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.83e-1

QD
type: SiteQuality
SIO_000300: 5.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15212
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65942
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e0

DP
type: SiteQuality
SIO_000300: 1.622101e6

QD
type: SiteQuality
SIO_000300: 1.985e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.322e0

MQ
type: SiteQuality
SIO_000300: 5.998e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15316
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.867723844517501e-4
allele num: 10342
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65994
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.799e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 1.626754e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQ
type: SiteQuality
SIO_000300: 5.669e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

GenotypeQuality
all individuals: 2764
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 251
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515105602860519e-5
allele num: 66002
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: 8628
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15360
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

DP
type: SiteQuality
SIO_000300: 1.631347e6

GenotypeQuality
all individuals: 6672
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variant carriers: 0

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

GenotypeQuality
all individuals: 172
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15474
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: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66086
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.135e0

MQRankSum
type: SiteQuality
SIO_000300: -2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.291e1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.64e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.645286e6

GenotypeQuality
all individuals: 272
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1367
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022243713733075e-5
allele num: 66176
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.011e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

DP
type: SiteQuality
SIO_000300: 1.65794e6

QD
type: SiteQuality
SIO_000300: 1.209e1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.912533469335713e-4
allele num: 15686
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66230
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.2478e1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.6e0

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.24e1

DP
type: SiteQuality
SIO_000300: 1.666644e6

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

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
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: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66230
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.666644e6

QD
type: SiteQuality
SIO_000300: 1.24e1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
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: 11540
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
all individuals: 1352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 249
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GenotypeQuality
all individuals: 234
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GenotypeQuality
all individuals: 166
bin: 4.75e1
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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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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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: 892
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014408874419726e-5
allele num: 66348
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

FS
type: SiteQuality
SIO_000300: 4.855e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.67557e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.11e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.014318010550113e-5
allele num: 66350
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15946
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.855e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.676257e6

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

FS
type: SiteQuality
SIO_000300: 6.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.689117e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 9.09e0

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.13195977434388e-5
allele num: 16308
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

DP
type: SiteQuality
SIO_000300: 1.689593e6

QD
type: SiteQuality
SIO_000300: 1.312e1

FS
type: SiteQuality
SIO_000300: 3.544e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

VQSLOD
type: SiteQuality
SIO_000300: -6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

GenotypeQuality
all individuals: 32
bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.693357e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.842e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.621e0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e-1

DP
type: SiteQuality
SIO_000300: 1.693651e6

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.331e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.253e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

FS
type: SiteQuality
SIO_000300: 3.385e0

DP
type: SiteQuality
SIO_000300: 1.693654e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.128e1

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 677
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GenotypeQuality
all individuals: 876
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.041383476816191e-5
allele num: 66210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.932e0

DP
type: SiteQuality
SIO_000300: 1.683479e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
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SIO_000300: -1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
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SIO_000300: 3.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

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

African
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allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.022243713733075e-5
allele num: 66176
num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.239860227130913e-5
allele num: 16026
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11430
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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VQSLOD
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MQ
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MQRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6548
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.547700117625209e-5
allele num: 64612
num of homozygotes: 0

Other
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FS
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SIO_000300: 0.0e0

VQSLOD
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ClippingRankSum
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MQ
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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SIO_000300: 9.2e-2

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
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allele frequency: 9.924573243350536e-5
allele num: 10076
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64468
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11242
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VQSLOD
type: SiteQuality
SIO_000300: -7.64e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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SIO_000300: -1.341e0

InbreedingCoeff
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BaseQRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63382
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 9.044862518089724e-5
allele num: 11056
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -3.44e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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South Asian
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 10800
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African
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Other
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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ClippingRankSum
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QD
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 61538
num of homozygotes: 0

European (Finnish)
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Latino
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African
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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SIO_000300: 8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 1.544e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.625012187591407e-5
allele num: 61538
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14624
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 1.544e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 1.297494e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.635536946779628e-5
allele num: 61142
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.604e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.97e0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e0

DP
type: SiteQuality
SIO_000300: 1.268445e6

GenotypeQuality
all individuals: 2725
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.635536946779628e-5
allele num: 61142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e0

DP
type: SiteQuality
SIO_000300: 1.268445e6

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 1.604e0

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.97e0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9561
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.683728448275862e-5
allele num: 59392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.160293e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

QD
type: SiteQuality
SIO_000300: 1.45e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.997602876548142e-4
allele num: 10012
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.195e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.8e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 1.126706e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 330
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.776198934280639e-5
allele num: 56300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7252
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.817e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 1.116756e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.839e0

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 146

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 471
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 106
allele frequency: 1.725822207749918e-2
allele num: 6142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12912
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.914004914004914e-3
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 6.980240549828179e-4
allele num: 55872
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.115439e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 378
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 190
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GenotypeQuality
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GenotypeQuality
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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: 334
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GenotypeQuality
all individuals: 49971
bin: 9.75e1
variant carriers: 8

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 15522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 8
allele frequency: 1.204166415798663e-4
allele num: 66436
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

DP
type: SiteQuality
SIO_000300: 4.22399e6

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 513
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GenotypeQuality
all individuals: 845
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.787e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 4.225416e6

QD
type: SiteQuality
SIO_000300: 1.148e1

VQSLOD
type: SiteQuality
SIO_000300: 4.46e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.03e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

InbreedingCoeff
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SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-1

FS
type: SiteQuality
SIO_000300: 2.674e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.22995e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.433e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.004022695205788e-5
allele num: 66622
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
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SIO_000300: 4.245217e6

ReadPosRankSum
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SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.966e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.100536847242558e-5
allele num: 16392
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: 6.4e-1

FS
type: SiteQuality
SIO_000300: 1.887e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.066e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.963e0

VQSLOD
type: SiteQuality
SIO_000300: 4.95e-1

DP
type: SiteQuality
SIO_000300: 4.24961e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.00144023043687e-5
allele num: 66656
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

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

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

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

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

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

FS
type: SiteQuality
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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QD
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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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

East Asian
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Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

African
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South Asian
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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allele count: 0
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
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MQRankSum
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MQ
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QD
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.25e1
variant carriers: 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: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.132e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.11e-1

DP
type: SiteQuality
SIO_000300: 4.253154e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.949e0

VQSLOD
type: SiteQuality
SIO_000300: -9.760000000000001e-2

FS
type: SiteQuality
SIO_000300: 7.467e0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
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: 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: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.64e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

FS
type: SiteQuality
SIO_000300: 1.811e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

DP
type: SiteQuality
SIO_000300: 4.25344e6

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 360
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.26832222895215e-4
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66728
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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

DP
type: SiteQuality
SIO_000300: 4.253547e6

QD
type: SiteQuality
SIO_000300: 1.259e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.75e-1

GenotypeQuality
all individuals: 360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6840
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49959
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 627
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.11e0

DP
type: SiteQuality
SIO_000300: 4.250339e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.751e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.835e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

VQSLOD
type: SiteQuality
SIO_000300: -4.727e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
all individuals: 627
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 605
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
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: 16510
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: 1
allele frequency: 9.609840476648087e-5
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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e0

FS
type: SiteQuality
SIO_000300: 4.525e0

QD
type: SiteQuality
SIO_000300: 1.301e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: -7.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.362e0

DP
type: SiteQuality
SIO_000300: 4.250301e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 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

DP
type: SiteQuality
SIO_000300: 4.250182e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.68e0

QD
type: SiteQuality
SIO_000300: 1.756e1

VQSLOD
type: SiteQuality
SIO_000300: -1.378e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 2.803e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 16510
num of homozygotes: 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

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.250233e6

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.727e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 2.526e0

QD
type: SiteQuality
SIO_000300: 1.336e1

GenotypeQuality
all individuals: 359
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6850
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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DP
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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FS
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ClippingRankSum
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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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African
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European (Non-Finnish)
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East Asian
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South Asian
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FS
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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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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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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MQ
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QD
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FS
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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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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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DP
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African
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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MQ
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ClippingRankSum
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South Asian
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BaseQRankSum
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FS
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VQSLOD
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