6-139265755-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139265755
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139265755
    reference: chr 6
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.47T>C
  hgvsp: ENST00000530575.1:c.47T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.591T>C
  hgvsp: ENST00000529597.1:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.633T>C
  hgvsp: ENST00000367663.4:c.633T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.633T>C
  hgvsp: ENST00000450536.2:c.633T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+601T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.633T>C
  hgvsp: ENST00000409812.2:c.633T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+601T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.633T>C
  hgvsp: ENST00000258062.5:c.633T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.633T>C
  hgvsp: ENST00000415951.2:c.633T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12684
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser211Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

6-139265763-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139265763
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139265763
    reference: chr 6
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.629-4A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+593A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.629-4A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.629-4A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.629-4A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.43-4A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.587-4A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.629-4A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+593A>T
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9758
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6440
  bin: 6.75e1
  variant carriers: 0
hgvs: c.629-4A>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

6-139265782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139265782
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139265782
    reference: chr 6
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.629-23A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.43-23A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.587-23A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+574A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.629-23A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.629-23A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+574A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.629-23A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.629-23A>G
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

6-139265783-G-GCATCCTGCTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139265783
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139265793
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 120550
alternate allele: GCATCCTGCTT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

6-139265792-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139265792
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139265792
    reference: chr 6
allele count: 41
allele frequency: 3.406786984411872e-4
allele num: 120348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.629-33A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.43-33A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.629-33A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+564A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.629-33A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.629-33A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.587-33A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.629-33A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+564A>G
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9498
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12108
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18456
  bin: 9.75e1
  variant carriers: 41
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

6-139265799-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139265799
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139265799
    reference: chr 6
allele count: 1
allele frequency: 8.340144451301897e-6
allele num: 119902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.629-40C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.587-40C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+557C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.629-40C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.43-40C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.629-40C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+557C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.629-40C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.629-40C>A
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS

6-139265800-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139265800
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139265799
    reference: chr 6
allele count: 395
allele frequency: 3.297987809969107e-3
allele num: 119770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.629-42delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.629-42delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+555delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+555delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.629-42delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.587-42delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.43-42delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.629-42delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.629-42delT
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 2.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 1.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11092
  bin: 3.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 5.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 3.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: GA
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

6-139265805-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139265805
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139265805
    reference: chr 6
allele count: 16
allele frequency: 1.338150675766091e-4
allele num: 119568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+551T>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.629-46T>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.43-46T>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.587-46T>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.629-46T>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.629-46T>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+551T>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.629-46T>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.629-46T>A
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10058
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8904
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

6-139265807-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139265807
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139265807
    reference: chr 6
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+549C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+549C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.629-48C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.629-48C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.629-48C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.629-48C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.43-48C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.629-48C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.587-48C>T
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/6-139265810-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139265810
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139265810
    reference: chr 6
allele count: 3
allele frequency: 2.521644111960999e-5
allele num: 118970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.587-51T>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+546T>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.43-51T>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.629-51T>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.629-51T>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.629-51T>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+546T>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.629-51T>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.629-51T>G
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

6-139266314-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266314
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266314
    reference: chr 6
allele count: 1
allele frequency: 2.709586517097491e-5
allele num: 36906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.628+42A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.42+42A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.628+42A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+42A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.628+42A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.586+42A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.628+42A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+42A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.628+42A>G
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5001
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

6-139266316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266316
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266316
    reference: chr 6
allele count: 1
allele frequency: 2.686727565824825e-5
allele num: 37220
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.628+40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.628+40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.628+40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.586+40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.628+40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.42+40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.628+40C>T
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4847
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/6-139266318-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266318
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266317
    reference: chr 6
allele count: 3
allele frequency: 7.997014447939436e-5
allele num: 37514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.628+37delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.628+37delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.628+37delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.42+37delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+37delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.628+37delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.586+37delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+37delT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.628+37delT
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11600
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7564
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: CA
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

6-139266334-TAATC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266334
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266330
    reference: chr 6
allele count: 2
allele frequency: 4.573519323119141e-5
allele num: 43730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.586+18_586+21delGATT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.628+18_628+21delGATT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.628+18_628+21delGATT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.628+18_628+21delGATT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+18_628+21delGATT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.42+18_42+21delGATT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.628+18_628+21delGATT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+18_628+21delGATT
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.628+18_628+21delGATT
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34113
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10856
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: TAATC
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

6-139266340-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266340
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266340
    reference: chr 6
allele count: 2
allele frequency: 4.206098843322818e-5
allele num: 47550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+16T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.628+16T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.586+16T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.42+16T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+16T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.628+16T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.628+16T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.628+16T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.628+16T>C
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33622
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

6-139266347-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266347
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266347
    reference: chr 6
allele count: 2
allele frequency: 3.782720532607051e-5
allele num: 52872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.628+9A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+9A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.628+9A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.586+9A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.628+9A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.628+9A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.628+9A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.42+9A>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+9A>T
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

6-139266349-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266349
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266349
    reference: chr 6
allele count: 1
allele frequency: 1.815145574675089e-5
allele num: 55092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.628+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.42+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.586+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.628+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.628+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.628+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.628+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.628+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.628+7A>G
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31216
  bin: 2.25e1
  variant carriers: 0
hgvs: c.628+7A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

6-139266360-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266360
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266360
    reference: chr 6
allele count: 1
allele frequency: 1.476101910075872e-5
allele num: 67746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.38A>G
  hgvsp: ENST00000530575.1:c.38A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.624A>G
  hgvsp: ENST00000445570.1:c.624A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.624A>G
  hgvsp: ENST00000483468.1:c.624A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.624A>G
  hgvsp: ENST00000367663.4:c.624A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.582A>G
  hgvsp: ENST00000529597.1:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.624A>G
  hgvsp: ENST00000415951.2:c.624A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.624A>G
  hgvsp: ENST00000450536.2:c.624A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.624A>G
  hgvsp: ENST00000258062.5:c.624A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.624A>G
  hgvsp: ENST00000409812.2:c.624A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln208Gln
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

6-139266365-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266365
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266365
    reference: chr 6
allele count: 1
allele frequency: 1.357883873771115e-5
allele num: 73644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.33G>A
  hgvsp: ENSP00000431474.1:p.Ala12Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.619G>A
  hgvsp: ENSP00000392065.2:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.619G>A
  hgvsp: ENSP00000386699.2:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.577G>A
  hgvsp: ENSP00000434251.1:p.Ala193Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.619G>A
  hgvsp: ENSP00000258062.5:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.619G>A
  hgvsp: ENSP00000397941.2:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.619G>A
  hgvsp: ENSP00000401729.1:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.619G>A
  hgvsp: ENSP00000435392.1:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.619G>A
  hgvsp: ENSP00000356635.4:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala207Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

6-139266379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266379
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266379
    reference: chr 6
allele count: 1
allele frequency: 1.161251364470353e-5
allele num: 86114
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.605C>T
  hgvsp: ENSP00000258062.5:p.Ser202Phe
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.605C>T
  hgvsp: ENSP00000435392.1:p.Ser202Phe
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.605C>T
  hgvsp: ENSP00000356635.4:p.Ser202Phe
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.605C>T
  hgvsp: ENSP00000392065.2:p.Ser202Phe
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.605C>T
  hgvsp: ENSP00000386699.2:p.Ser202Phe
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.605C>T
  hgvsp: ENSP00000401729.1:p.Ser202Phe
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.563C>T
  hgvsp: ENSP00000434251.1:p.Ser188Phe
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.19C>T
  hgvsp: ENSP00000431474.1:p.Ser7Phe
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.605C>T
  hgvsp: ENSP00000397941.2:p.Ser202Phe
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18185
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser202Phe
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

6-139266390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266390
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266390
    reference: chr 6
allele count: 11
allele frequency: 1.205109664979513e-4
allele num: 91278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.594G>A
  hgvsp: ENST00000409812.2:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.8G>A
  hgvsp: ENST00000530575.1:c.8G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.594G>A
  hgvsp: ENST00000445570.1:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.594G>A
  hgvsp: ENST00000367663.4:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.552G>A
  hgvsp: ENST00000529597.1:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.594G>A
  hgvsp: ENST00000258062.5:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.594G>A
  hgvsp: ENST00000450536.2:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.594G>A
  hgvsp: ENST00000415951.2:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.594G>A
  hgvsp: ENST00000483468.1:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28561
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14619
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly198Gly
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

6-139266396-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266396
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266396
    reference: chr 6
allele count: 3
allele frequency: 3.200751109593718e-5
allele num: 93728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.546A>T
  hgvsp: ENST00000529597.1:c.546A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.588A>T
  hgvsp: ENST00000258062.5:c.588A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.588A>T
  hgvsp: ENST00000409812.2:c.588A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.588A>T
  hgvsp: ENST00000445570.1:c.588A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.588A>T
  hgvsp: ENST00000483468.1:c.588A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.2A>T
  hgvsp: ENST00000530575.1:c.2A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.588A>T
  hgvsp: ENST00000450536.2:c.588A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.588A>T
  hgvsp: ENST00000415951.2:c.588A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.588A>T
  hgvsp: ENST00000367663.4:c.588A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly196Gly
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-139266397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266397
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266397
    reference: chr 6
allele count: 1
allele frequency: 1.06256375382523e-5
allele num: 94112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.587G>A
  hgvsp: ENSP00000397941.2:p.Gly196Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.587G>A
  hgvsp: ENSP00000401729.1:p.Gly196Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.545G>A
  hgvsp: ENSP00000434251.1:p.Gly182Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.587G>A
  hgvsp: ENSP00000356635.4:p.Gly196Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.587G>A
  hgvsp: ENSP00000386699.2:p.Gly196Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000431474
  ensembl transcript: ENST00000530575
  gene symbol: REPS1
  hgvsc: ENST00000530575.1:c.1G>A
  hgvsp: ENST00000530575.1:c.1G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.587G>A
  hgvsp: ENSP00000435392.1:p.Gly196Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.587G>A
  hgvsp: ENSP00000258062.5:p.Gly196Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.587G>A
  hgvsp: ENSP00000392065.2:p.Gly196Glu
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly196Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

6-139266399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266399
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266399
    reference: chr 6
allele count: 5
allele frequency: 5.273371582855215e-5
allele num: 94816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.585G>A
  hgvsp: ENST00000445570.1:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.585G>A
  hgvsp: ENST00000258062.5:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.585G>A
  hgvsp: ENST00000409812.2:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.543G>A
  hgvsp: ENST00000529597.1:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.585G>A
  hgvsp: ENST00000367663.4:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.585G>A
  hgvsp: ENST00000450536.2:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.585G>A
  hgvsp: ENST00000415951.2:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.585G>A
  hgvsp: ENST00000483468.1:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28881
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala195Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

6-139266400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266400
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266400
    reference: chr 6
allele count: 11
allele frequency: 1.150627615062761e-4
allele num: 95600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.584C>T
  hgvsp: ENSP00000356635.4:p.Ala195Val
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.584C>T
  hgvsp: ENSP00000258062.5:p.Ala195Val
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.584C>T
  hgvsp: ENSP00000435392.1:p.Ala195Val
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.584C>T
  hgvsp: ENSP00000386699.2:p.Ala195Val
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.584C>T
  hgvsp: ENSP00000392065.2:p.Ala195Val
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.584C>T
  hgvsp: ENSP00000401729.1:p.Ala195Val
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.584C>T
  hgvsp: ENSP00000397941.2:p.Ala195Val
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.542C>T
  hgvsp: ENSP00000434251.1:p.Ala181Val
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29194
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Ala195Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

6-139266401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266401
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266401
    reference: chr 6
allele count: 9
allele frequency: 9.368364075446559e-5
allele num: 96068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.583G>A
  hgvsp: ENSP00000386699.2:p.Ala195Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.583G>A
  hgvsp: ENSP00000401729.1:p.Ala195Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.541G>A
  hgvsp: ENSP00000434251.1:p.Ala181Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.583G>A
  hgvsp: ENSP00000435392.1:p.Ala195Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.583G>A
  hgvsp: ENSP00000397941.2:p.Ala195Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.583G>A
  hgvsp: ENSP00000392065.2:p.Ala195Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.583G>A
  hgvsp: ENSP00000258062.5:p.Ala195Thr
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.583G>A
  hgvsp: ENSP00000356635.4:p.Ala195Thr
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12265
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29147
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala195Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

6-139266402-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266402
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266402
    reference: chr 6
allele count: 6240
allele frequency: 6.301629940821232e-2
allele num: 99022
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.582C>T
  hgvsp: ENST00000258062.5:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.582C>T
  hgvsp: ENST00000409812.2:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.582C>T
  hgvsp: ENST00000450536.2:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.582C>T
  hgvsp: ENST00000367663.4:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.540C>T
  hgvsp: ENST00000529597.1:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.582C>T
  hgvsp: ENST00000445570.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.582C>T
  hgvsp: ENST00000415951.2:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.582C>T
  hgvsp: ENST00000483468.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28173
  bin: 2.25e1
  variant carriers: 1187
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 7.5e0
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 1.25e1
  variant carriers: 565
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 1.75e1
  variant carriers: 1188
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.25e1
  variant carriers: 468
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 2.75e1
  variant carriers: 838
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.75e1
  variant carriers: 274
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 300
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 6.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 5.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 38
hgvs: p.Leu194Leu
num of homozygotes: 405
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

6-139266406-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266406
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266406
    reference: chr 6
allele count: 1
allele frequency: 9.935024936912592e-6
allele num: 100654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.536C>A
  hgvsp: ENSP00000434251.1:p.Pro179His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.578C>A
  hgvsp: ENSP00000392065.2:p.Pro193His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.578C>A
  hgvsp: ENSP00000258062.5:p.Pro193His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.578C>A
  hgvsp: ENSP00000401729.1:p.Pro193His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.578C>A
  hgvsp: ENSP00000397941.2:p.Pro193His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.578C>A
  hgvsp: ENSP00000435392.1:p.Pro193His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.578C>A
  hgvsp: ENSP00000386699.2:p.Pro193His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.578C>A
  hgvsp: ENSP00000356635.4:p.Pro193His
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28780
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro193His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

6-139266417-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266417
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266417
    reference: chr 6
allele count: 1
allele frequency: 9.745448875375199e-6
allele num: 102612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.567T>C
  hgvsp: ENST00000445570.1:c.567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.567T>C
  hgvsp: ENST00000483468.1:c.567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.525T>C
  hgvsp: ENST00000529597.1:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.567T>C
  hgvsp: ENST00000258062.5:c.567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.567T>C
  hgvsp: ENST00000367663.4:c.567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.567T>C
  hgvsp: ENST00000450536.2:c.567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.567T>C
  hgvsp: ENST00000409812.2:c.567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.567T>C
  hgvsp: ENST00000415951.2:c.567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn189Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

6-139266419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266419
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266419
    reference: chr 6
allele count: 9
allele frequency: 8.750437521876094e-5
allele num: 102852
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.523A>G
  hgvsp: ENSP00000434251.1:p.Asn175Asp
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.565A>G
  hgvsp: ENSP00000386699.2:p.Asn189Asp
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.565A>G
  hgvsp: ENSP00000392065.2:p.Asn189Asp
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.565A>G
  hgvsp: ENSP00000356635.4:p.Asn189Asp
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.565A>G
  hgvsp: ENSP00000258062.5:p.Asn189Asp
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.565A>G
  hgvsp: ENSP00000397941.2:p.Asn189Asp
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.565A>G
  hgvsp: ENSP00000435392.1:p.Asn189Asp
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.565A>G
  hgvsp: ENSP00000401729.1:p.Asn189Asp
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27445
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11376
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn189Asp
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

6-139266425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266425
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266425
    reference: chr 6
allele count: 9
allele frequency: 8.693468307478314e-5
allele num: 103526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.559G>A
  hgvsp: ENSP00000397941.2:p.Gly187Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.559G>A
  hgvsp: ENSP00000356635.4:p.Gly187Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.559G>A
  hgvsp: ENSP00000401729.1:p.Gly187Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.559G>A
  hgvsp: ENSP00000258062.5:p.Gly187Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.559G>A
  hgvsp: ENSP00000386699.2:p.Gly187Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.559G>A
  hgvsp: ENSP00000392065.2:p.Gly187Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.559G>A
  hgvsp: ENSP00000435392.1:p.Gly187Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.517G>A
  hgvsp: ENSP00000434251.1:p.Gly173Ser
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7903
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27001
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly187Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

6-139266426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266426
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266426
    reference: chr 6
allele count: 2
allele frequency: 1.924631433080565e-5
allele num: 103916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.516C>T
  hgvsp: ENST00000529597.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.558C>T
  hgvsp: ENST00000415951.2:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.558C>T
  hgvsp: ENST00000445570.1:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.558C>T
  hgvsp: ENST00000409812.2:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.558C>T
  hgvsp: ENST00000367663.4:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.558C>T
  hgvsp: ENST00000483468.1:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.558C>T
  hgvsp: ENST00000258062.5:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.558C>T
  hgvsp: ENST00000450536.2:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser186Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

6-139266430-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266430
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266430
    reference: chr 6
allele count: 6
allele frequency: 5.7232248464268e-5
allele num: 104836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.512C>A
  hgvsp: ENSP00000434251.1:p.Pro171His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.554C>A
  hgvsp: ENSP00000397941.2:p.Pro185His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.554C>A
  hgvsp: ENSP00000392065.2:p.Pro185His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.554C>A
  hgvsp: ENSP00000435392.1:p.Pro185His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.554C>A
  hgvsp: ENSP00000386699.2:p.Pro185His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.554C>A
  hgvsp: ENSP00000401729.1:p.Pro185His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.554C>A
  hgvsp: ENSP00000258062.5:p.Pro185His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.554C>A
  hgvsp: ENSP00000356635.4:p.Pro185His
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro185His
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

6-139266436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266436
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266436
    reference: chr 6
allele count: 4
allele frequency: 3.786516215755694e-5
allele num: 105638
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.548G>A
  hgvsp: ENSP00000258062.5:p.Arg183His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.548G>A
  hgvsp: ENSP00000397941.2:p.Arg183His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.506G>A
  hgvsp: ENSP00000434251.1:p.Arg169His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.548G>A
  hgvsp: ENSP00000386699.2:p.Arg183His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.548G>A
  hgvsp: ENSP00000401729.1:p.Arg183His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.548G>A
  hgvsp: ENSP00000392065.2:p.Arg183His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.548G>A
  hgvsp: ENSP00000356635.4:p.Arg183His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.548G>A
  hgvsp: ENSP00000435392.1:p.Arg183His
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27847
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10280
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg183His
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

6-139266437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266437
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266437
    reference: chr 6
allele count: 2
allele frequency: 1.887861053426468e-5
allele num: 105940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.547C>T
  hgvsp: ENSP00000356635.4:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.547C>T
  hgvsp: ENSP00000258062.5:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.547C>T
  hgvsp: ENSP00000401729.1:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.547C>T
  hgvsp: ENSP00000392065.2:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.547C>T
  hgvsp: ENSP00000386699.2:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.547C>T
  hgvsp: ENSP00000397941.2:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.505C>T
  hgvsp: ENSP00000434251.1:p.Arg169Cys
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.547C>T
  hgvsp: ENSP00000435392.1:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28063
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg183Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

6-139266454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266454
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266454
    reference: chr 6
allele count: 3
allele frequency: 2.748914178899335e-5
allele num: 109134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.488C>T
  hgvsp: ENSP00000434251.1:p.Thr163Ile
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.530C>T
  hgvsp: ENSP00000258062.5:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.530C>T
  hgvsp: ENSP00000386699.2:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.530C>T
  hgvsp: ENSP00000392065.2:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.530C>T
  hgvsp: ENSP00000435392.1:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.530C>T
  hgvsp: ENSP00000401729.1:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.530C>T
  hgvsp: ENSP00000356635.4:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.530C>T
  hgvsp: ENSP00000397941.2:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr177Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

6-139266468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266468
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266468
    reference: chr 6
allele count: 1
allele frequency: 9.105312039043577e-6
allele num: 109826
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.516A>G
  hgvsp: ENST00000258062.5:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.516A>G
  hgvsp: ENST00000445570.1:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.516A>G
  hgvsp: ENST00000409812.2:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.516A>G
  hgvsp: ENST00000415951.2:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.474A>G
  hgvsp: ENST00000529597.1:c.474A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.516A>G
  hgvsp: ENST00000450536.2:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.516A>G
  hgvsp: ENST00000367663.4:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.516A>G
  hgvsp: ENST00000483468.1:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro172Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

6-139266470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266470
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266470
    reference: chr 6
allele count: 1
allele frequency: 9.098022089997635e-6
allele num: 109914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.472C>T
  hgvsp: ENSP00000434251.1:p.Pro158Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.514C>T
  hgvsp: ENSP00000401729.1:p.Pro172Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.514C>T
  hgvsp: ENSP00000397941.2:p.Pro172Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.514C>T
  hgvsp: ENSP00000435392.1:p.Pro172Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.514C>T
  hgvsp: ENSP00000386699.2:p.Pro172Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.514C>T
  hgvsp: ENSP00000258062.5:p.Pro172Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.514C>T
  hgvsp: ENSP00000356635.4:p.Pro172Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.514C>T
  hgvsp: ENSP00000392065.2:p.Pro172Ser
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro172Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

6-139266481-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266481
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266481
    reference: chr 6
allele count: 1
allele frequency: 9.061746742302046e-6
allele num: 110354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.461A>G
  hgvsp: ENSP00000434251.1:p.Gln154Arg
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.503A>G
  hgvsp: ENSP00000397941.2:p.Gln168Arg
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.503A>G
  hgvsp: ENSP00000392065.2:p.Gln168Arg
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.503A>G
  hgvsp: ENSP00000401729.1:p.Gln168Arg
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.503A>G
  hgvsp: ENSP00000356635.4:p.Gln168Arg
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.503A>G
  hgvsp: ENSP00000386699.2:p.Gln168Arg
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.503A>G
  hgvsp: ENSP00000258062.5:p.Gln168Arg
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.503A>G
  hgvsp: ENSP00000435392.1:p.Gln168Arg
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10340
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln168Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

6-139266485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266485
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266485
    reference: chr 6
allele count: 1
allele frequency: 9.054526357726228e-6
allele num: 110442
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.499C>T
  hgvsp: ENSP00000258062.5:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.499C>T
  hgvsp: ENSP00000392065.2:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.457C>T
  hgvsp: ENSP00000434251.1:p.Pro153Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.499C>T
  hgvsp: ENSP00000386699.2:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.499C>T
  hgvsp: ENSP00000397941.2:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.499C>T
  hgvsp: ENSP00000401729.1:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.499C>T
  hgvsp: ENSP00000356635.4:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.499C>T
  hgvsp: ENSP00000435392.1:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24357
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro167Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

6-139266495-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266495
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266495
    reference: chr 6
allele count: 1
allele frequency: 9.041591320072333e-6
allele num: 110600
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.489A>G
  hgvsp: ENST00000258062.5:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.489A>G
  hgvsp: ENST00000445570.1:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.447A>G
  hgvsp: ENST00000529597.1:c.447A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.489A>G
  hgvsp: ENST00000483468.1:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.489A>G
  hgvsp: ENST00000409812.2:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.489A>G
  hgvsp: ENST00000367663.4:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.489A>G
  hgvsp: ENST00000450536.2:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.489A>G
  hgvsp: ENST00000415951.2:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro163Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

6-139266497-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266497
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266497
    reference: chr 6
allele count: 1
allele frequency: 9.05354265123943e-6
allele num: 110454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.487C>G
  hgvsp: ENSP00000401729.1:p.Pro163Ala
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.487C>G
  hgvsp: ENSP00000392065.2:p.Pro163Ala
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.487C>G
  hgvsp: ENSP00000386699.2:p.Pro163Ala
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.487C>G
  hgvsp: ENSP00000397941.2:p.Pro163Ala
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.445C>G
  hgvsp: ENSP00000434251.1:p.Pro149Ala
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.487C>G
  hgvsp: ENSP00000356635.4:p.Pro163Ala
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.487C>G
  hgvsp: ENSP00000435392.1:p.Pro163Ala
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.487C>G
  hgvsp: ENSP00000258062.5:p.Pro163Ala
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro163Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

6-139266501-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266501
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266501
    reference: chr 6
allele count: 75
allele frequency: 6.815703380588877e-4
allele num: 110040
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.483A>C
  hgvsp: ENST00000258062.5:c.483A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.441A>C
  hgvsp: ENST00000529597.1:c.441A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.483A>C
  hgvsp: ENST00000445570.1:c.483A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.483A>C
  hgvsp: ENST00000367663.4:c.483A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.483A>C
  hgvsp: ENST00000409812.2:c.483A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.483A>C
  hgvsp: ENST00000415951.2:c.483A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.483A>C
  hgvsp: ENST00000450536.2:c.483A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.483A>C
  hgvsp: ENST00000483468.1:c.483A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21854
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 9136
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 9.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 22816
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala161Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-139266506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266506
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266506
    reference: chr 6
allele count: 2
allele frequency: 1.834660404359153e-5
allele num: 109012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.436C>T
  hgvsp: ENSP00000434251.1:p.Pro146Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.478C>T
  hgvsp: ENSP00000435392.1:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.478C>T
  hgvsp: ENSP00000397941.2:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.478C>T
  hgvsp: ENSP00000258062.5:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.478C>T
  hgvsp: ENSP00000401729.1:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.478C>T
  hgvsp: ENSP00000392065.2:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.478C>T
  hgvsp: ENSP00000386699.2:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.478C>T
  hgvsp: ENSP00000356635.4:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20917
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10042
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro160Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

6-139266513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266513
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266513
    reference: chr 6
allele count: 1
allele frequency: 9.279881217520416e-6
allele num: 107760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.475-4C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.475-4C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.475-4C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.475-4C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.433-4C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.475-4C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.475-4C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.475-4C>T
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 5.25e1
  variant carriers: 0
hgvs: c.475-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-139266518-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266518
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266518
    reference: chr 6
allele count: 2
allele frequency: 1.8346940647647e-5
allele num: 109010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.475-9C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.475-9C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.475-9C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.475-9C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.433-9C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.475-9C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.475-9C>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.475-9C>A
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

6-139266520-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266520
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266520
    reference: chr 6
allele count: 1
allele frequency: 9.129752035934704e-6
allele num: 109532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.433-11T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.475-11T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.475-11T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.475-11T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.475-11T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.475-11T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.475-11T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.475-11T>C
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-139266526-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266526
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266526
    reference: chr 6
allele count: 1
allele frequency: 9.030650026188885e-6
allele num: 110734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.433-17A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.475-17A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.475-17A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.475-17A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.475-17A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.475-17A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.475-17A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.475-17A>G
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

6-139266529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266529
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266529
    reference: chr 6
allele count: 1
allele frequency: 8.951750067138126e-6
allele num: 111710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.475-20A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.475-20A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.475-20A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.475-20A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.433-20A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.475-20A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.475-20A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.475-20A>G
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

6-139266549-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266549
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266549
    reference: chr 6
allele count: 39
allele frequency: 3.310471275295396e-4
allele num: 117808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.475-40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.475-40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.433-40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.475-40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.475-40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.475-40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.475-40C>T
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.475-40C>T
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34074
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14070
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

6-139266551-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266551
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266551
    reference: chr 6
allele count: 97
allele frequency: 8.244093149753527e-4
allele num: 117660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.475-42G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.475-42G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.475-42G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.475-42G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.433-42G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.475-42G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.475-42G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.475-42G>A
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 34061
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14063
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 9.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

6-139266555-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266555
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266555
    reference: chr 6
allele count: 33
allele frequency: 2.806647502083723e-4
allele num: 117578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.475-46A>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.475-46A>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.433-46A>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.475-46A>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.475-46A>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.475-46A>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.475-46A>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.475-46A>C
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

6-139266591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266591
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266591
    reference: chr 6
allele count: 1
allele frequency: 8.692175303791527e-6
allele num: 115046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.474+47G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.474+47G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.432+47G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.474+47G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.474+47G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.474+47G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.474+47G>A
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.474+47G>A
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7706
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

6-139266594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266594
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266594
    reference: chr 6
allele count: 2
allele frequency: 1.738253750282466e-5
allele num: 115058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.474+44A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.474+44A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.432+44A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.474+44A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.474+44A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.474+44A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.474+44A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.474+44A>G
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17684
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

6-139266616-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266616
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266616
    reference: chr 6
allele count: 9
allele frequency: 7.834807437843861e-5
allele num: 114872
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.474+22T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.474+22T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.474+22T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.474+22T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.474+22T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.432+22T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.474+22T>C
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.474+22T>C
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 16966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

6-139266631-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266631
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266631
    reference: chr 6
allele count: 3
allele frequency: 2.604890247290914e-5
allele num: 115168
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.474+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.474+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.432+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.474+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.474+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.474+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.474+7A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.474+7A>G
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8776
  bin: 6.75e1
  variant carriers: 1
hgvs: c.474+7A>G
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

6-139266634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266634
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266634
    reference: chr 6
allele count: 4
allele frequency: 3.470173855710171e-5
allele num: 115268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.474+4A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.474+4A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.474+4A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.474+4A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.432+4A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.474+4A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.474+4A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.474+4A>G
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
hgvs: c.474+4A>G
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

6-139266635-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266635
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266635
    reference: chr 6
allele count: 1
allele frequency: 8.675284115554785e-6
allele num: 115270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.474+3A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.474+3A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.474+3A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.474+3A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.432+3A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.474+3A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.474+3A>G
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.474+3A>G
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
hgvs: c.474+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

6-139266641-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266641
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266641
    reference: chr 6
allele count: 1
allele frequency: 8.648873051841344e-6
allele num: 115622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.471A>G
  hgvsp: ENST00000445570.1:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.471A>G
  hgvsp: ENST00000258062.5:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.429A>G
  hgvsp: ENST00000529597.1:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.471A>G
  hgvsp: ENST00000450536.2:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.471A>G
  hgvsp: ENST00000415951.2:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.471A>G
  hgvsp: ENST00000409812.2:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.471A>G
  hgvsp: ENST00000483468.1:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.471A>G
  hgvsp: ENST00000367663.4:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala157Ala
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

6-139266657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266657
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266657
    reference: chr 6
allele count: 1
allele frequency: 8.570742911995611e-6
allele num: 116676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.455G>A
  hgvsp: ENSP00000392065.2:p.Arg152His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.455G>A
  hgvsp: ENSP00000435392.1:p.Arg152His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.455G>A
  hgvsp: ENSP00000258062.5:p.Arg152His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.455G>A
  hgvsp: ENSP00000397941.2:p.Arg152His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.413G>A
  hgvsp: ENSP00000434251.1:p.Arg138His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.455G>A
  hgvsp: ENSP00000356635.4:p.Arg152His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.455G>A
  hgvsp: ENSP00000401729.1:p.Arg152His
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.455G>A
  hgvsp: ENSP00000386699.2:p.Arg152His
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg152His
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

6-139266668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266668
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266668
    reference: chr 6
allele count: 139
allele frequency: 1.176908878465108e-3
allele num: 118106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.444G>A
  hgvsp: ENST00000483468.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.444G>A
  hgvsp: ENST00000450536.2:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.444G>A
  hgvsp: ENST00000409812.2:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.444G>A
  hgvsp: ENST00000445570.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.444G>A
  hgvsp: ENST00000415951.2:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.402G>A
  hgvsp: ENST00000529597.1:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.444G>A
  hgvsp: ENST00000258062.5:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.444G>A
  hgvsp: ENST00000367663.4:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17169
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17688
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr148Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/6-139266668-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266668
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266668
    reference: chr 6
allele count: 1
allele frequency: 8.466970348669839e-6
allele num: 118106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.444G>T
  hgvsp: ENST00000450536.2:c.444G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.444G>T
  hgvsp: ENST00000409812.2:c.444G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.444G>T
  hgvsp: ENST00000415951.2:c.444G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.444G>T
  hgvsp: ENST00000445570.1:c.444G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.444G>T
  hgvsp: ENST00000367663.4:c.444G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.402G>T
  hgvsp: ENST00000529597.1:c.402G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.444G>T
  hgvsp: ENST00000483468.1:c.444G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.444G>T
  hgvsp: ENST00000258062.5:c.444G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr148Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

6-139266669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266669
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266669
    reference: chr 6
allele count: 65
allele frequency: 5.493576741041244e-4
allele num: 118320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.443C>T
  hgvsp: ENSP00000386699.2:p.Thr148Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.401C>T
  hgvsp: ENSP00000434251.1:p.Thr134Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.443C>T
  hgvsp: ENSP00000356635.4:p.Thr148Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.443C>T
  hgvsp: ENSP00000397941.2:p.Thr148Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.443C>T
  hgvsp: ENSP00000401729.1:p.Thr148Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.443C>T
  hgvsp: ENSP00000435392.1:p.Thr148Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.443C>T
  hgvsp: ENSP00000392065.2:p.Thr148Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.443C>T
  hgvsp: ENSP00000258062.5:p.Thr148Met
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17246
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr148Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

6-139266683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266683
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266683
    reference: chr 6
allele count: 3
allele frequency: 2.506433178491462e-5
allele num: 119692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.387C>T
  hgvsp: ENST00000529597.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.429C>T
  hgvsp: ENST00000415951.2:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.429C>T
  hgvsp: ENST00000483468.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.429C>T
  hgvsp: ENST00000409812.2:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.429C>T
  hgvsp: ENST00000445570.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.429C>T
  hgvsp: ENST00000367663.4:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.429C>T
  hgvsp: ENST00000450536.2:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.429C>T
  hgvsp: ENST00000258062.5:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7528
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser143Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-139266691-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266691
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266691
    reference: chr 6
allele count: 1
allele frequency: 8.31849867735871e-6
allele num: 120214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.421A>G
  hgvsp: ENSP00000435392.1:p.Lys141Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.421A>G
  hgvsp: ENSP00000401729.1:p.Lys141Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.379A>G
  hgvsp: ENSP00000434251.1:p.Lys127Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.421A>G
  hgvsp: ENSP00000356635.4:p.Lys141Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.421A>G
  hgvsp: ENSP00000258062.5:p.Lys141Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.421A>G
  hgvsp: ENSP00000397941.2:p.Lys141Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.421A>G
  hgvsp: ENSP00000386699.2:p.Lys141Glu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.421A>G
  hgvsp: ENSP00000392065.2:p.Lys141Glu
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7527
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys141Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

6-139266697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266697
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266697
    reference: chr 6
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.415G>A
  hgvsp: ENSP00000258062.5:p.Val139Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.415G>A
  hgvsp: ENSP00000401729.1:p.Val139Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.415G>A
  hgvsp: ENSP00000435392.1:p.Val139Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.415G>A
  hgvsp: ENSP00000356635.4:p.Val139Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.415G>A
  hgvsp: ENSP00000397941.2:p.Val139Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.415G>A
  hgvsp: ENSP00000386699.2:p.Val139Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.415G>A
  hgvsp: ENSP00000392065.2:p.Val139Met
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.373G>A
  hgvsp: ENSP00000434251.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8353
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val139Met
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

6-139266706-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266706
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266706
    reference: chr 6
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.364A>G
  hgvsp: ENSP00000434251.1:p.Arg122Gly
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.406A>G
  hgvsp: ENSP00000435392.1:p.Arg136Gly
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.406A>G
  hgvsp: ENSP00000397941.2:p.Arg136Gly
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.406A>G
  hgvsp: ENSP00000386699.2:p.Arg136Gly
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.406A>G
  hgvsp: ENSP00000258062.5:p.Arg136Gly
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.406A>G
  hgvsp: ENSP00000356635.4:p.Arg136Gly
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.406A>G
  hgvsp: ENSP00000392065.2:p.Arg136Gly
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.406A>G
  hgvsp: ENSP00000401729.1:p.Arg136Gly
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg136Gly
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

6-139266709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266709
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266709
    reference: chr 6
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.403G>A
  hgvsp: ENSP00000356635.4:p.Gly135Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.403G>A
  hgvsp: ENSP00000386699.2:p.Gly135Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.403G>A
  hgvsp: ENSP00000401729.1:p.Gly135Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.403G>A
  hgvsp: ENSP00000392065.2:p.Gly135Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.403G>A
  hgvsp: ENSP00000435392.1:p.Gly135Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.361G>A
  hgvsp: ENSP00000434251.1:p.Gly121Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.403G>A
  hgvsp: ENSP00000397941.2:p.Gly135Ser
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.403G>A
  hgvsp: ENSP00000258062.5:p.Gly135Ser
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17818
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly135Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

6-139266711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266711
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266711
    reference: chr 6
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.359C>T
  hgvsp: ENSP00000434251.1:p.Pro120Leu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.401C>T
  hgvsp: ENSP00000386699.2:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.401C>T
  hgvsp: ENSP00000401729.1:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.401C>T
  hgvsp: ENSP00000356635.4:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.401C>T
  hgvsp: ENSP00000258062.5:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.401C>T
  hgvsp: ENSP00000435392.1:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.401C>T
  hgvsp: ENSP00000392065.2:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.401C>T
  hgvsp: ENSP00000397941.2:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7526
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro134Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

6-139266713-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266713
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266713
    reference: chr 6
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000386699
  ensembl transcript: ENST00000409812
  gene symbol: REPS1
  hgvsc: ENST00000409812.2:c.399A>G
  hgvsp: ENST00000409812.2:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000435392
  ensembl transcript: ENST00000483468
  gene symbol: REPS1
  hgvsc: ENST00000483468.1:c.399A>G
  hgvsp: ENST00000483468.1:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000356635
  ensembl transcript: ENST00000367663
  gene symbol: REPS1
  hgvsc: ENST00000367663.4:c.399A>G
  hgvsp: ENST00000367663.4:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000434251
  ensembl transcript: ENST00000529597
  gene symbol: REPS1
  hgvsc: ENST00000529597.1:c.357A>G
  hgvsp: ENST00000529597.1:c.357A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000401729
  ensembl transcript: ENST00000445570
  gene symbol: REPS1
  hgvsc: ENST00000445570.1:c.399A>G
  hgvsp: ENST00000445570.1:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.399A>G
  hgvsp: ENST00000450536.2:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000258062
  ensembl transcript: ENST00000258062
  gene symbol: REPS1
  hgvsc: ENST00000258062.5:c.399A>G
  hgvsp: ENST00000258062.5:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000397941
  ensembl transcript: ENST00000415951
  gene symbol: REPS1
  hgvsc: ENST00000415951.2:c.399A>G
  hgvsp: ENST00000415951.2:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro133Pro
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

6-139266714-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139266714
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 139266714
    reference: chr 6
allele count: 11
allele frequency: 9.087304209900205e-5
allele num: 121048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135597
  ensembl protein: ENSP00000392065
  ensembl transcript: ENST00000450536
  gene symbol: REPS1
  hgvsc: ENST00000450536.2:c.398C>G
  hgvsp: ENSP00000392065.2:p.Pro133Arg
  variant of: http://identifiers.org/hgnc/15578
canonical: true
consequence: missense
filter: PASS
hgvs: p.Pro133Arg
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 4561
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6476
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18465
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 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: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.228e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -3.753e-1

DP
type: SiteQuality
SIO_000300: 2.410201e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.5e-1

QD
type: SiteQuality
SIO_000300: 7.93e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

GenotypeQuality
all individuals: 480
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17428
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18466
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 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: 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: 16350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.406725e6

FS
type: SiteQuality
SIO_000300: 3.096e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.38e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 1.089e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2741
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3612
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18461
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15636
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4524
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

DP
type: SiteQuality
SIO_000300: 2.383367e6

VQSLOD
type: SiteQuality
SIO_000300: -4.726e-1

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.354e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.057e0

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18460
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4197
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4521
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3612
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
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: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66384
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-1

DP
type: SiteQuality
SIO_000300: 2.383286e6

MQ
type: SiteQuality
SIO_000300: 5.593e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.322e0

VQSLOD
type: SiteQuality
SIO_000300: -1.221e0

QD
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.099e0

MQRankSum
type: SiteQuality
SIO_000300: -1.557e0

GenotypeQuality
all individuals: 1864
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3601
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4491
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5914
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.581704079169684e-4
allele num: 66288
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.539951573849879e-4
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 2.355405e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.324e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 969
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11570
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 676
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3584
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5505
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18396
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4157
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15832
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66144
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.320348e6

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.249e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 1.71e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 3.554e0

GenotypeQuality
all individuals: 696
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11051
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4109
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1727
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 986
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18732
bin: 9.75e1
variant carriers: 385

GenotypeQuality
all individuals: 776
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 217
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3566
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2569
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5401
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 81
allele frequency: 5.132429349892283e-3
allele num: 15782
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.389854065323141e-3
allele num: 11512
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.242152466367713e-3
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 14
allele frequency: 2.119285498032092e-3
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 282
allele frequency: 4.265617909544698e-3
allele num: 66110
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

DP
type: SiteQuality
SIO_000300: 2.311451e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 6.026e1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

GenotypeQuality
all individuals: 1183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18479
bin: 9.75e1
variant carriers: 16

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

GenotypeQuality
all individuals: 4379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3592
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8795
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.423287795716839e-4
allele num: 66026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
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: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.36e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.624e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 2.286517e6

GenotypeQuality
all individuals: 2330
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1786
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18459
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1036
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65922
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.411078343377356e-5
allele num: 15598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0

MQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.173e0

QD
type: SiteQuality
SIO_000300: 1.537e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.278828e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.811e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2461
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2359
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4563
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4351
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18460
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2665
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3592
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.6168876482903e-4
allele num: 11464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65774
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

QD
type: SiteQuality
SIO_000300: 1.565e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.418e0

MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 1.1713e1

DP
type: SiteQuality
SIO_000300: 2.269922e6

GenotypeQuality
all individuals: 5183
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7882
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4442
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.738438210765732e-5
allele num: 21104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2314
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.601e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 6.45677e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.162e1

GenotypeQuality
all individuals: 729
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7757
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4784
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4442
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4631
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.700573469963335e-5
allele num: 21274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

DP
type: SiteQuality
SIO_000300: 6.50878e5

VQSLOD
type: SiteQuality
SIO_000300: -6.136e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.69e-2

QD
type: SiteQuality
SIO_000300: 8.16e0

GenotypeQuality
all individuals: 260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 666
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4213
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4428
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25440
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3980
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4834
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.396518015082395e-4
allele num: 21482
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5126
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.309e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

QD
type: SiteQuality
SIO_000300: 2.945e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.827e0

DP
type: SiteQuality
SIO_000300: 6.58234e5

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
all individuals: 827
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 298
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4372
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5600
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3984
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32441
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.2123353678124e-4
allele num: 6226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

MQ
type: SiteQuality
SIO_000300: 5.521e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 7.38581e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

QD
type: SiteQuality
SIO_000300: 1.215e1

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32593
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4050
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.438262421898245e-5
allele num: 26888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6884
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-2

QD
type: SiteQuality
SIO_000300: 1.57e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

DP
type: SiteQuality
SIO_000300: 7.79243e5

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.700167504187605e-5
allele num: 29850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3900
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.149e1

VQSLOD
type: SiteQuality
SIO_000300: -6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

DP
type: SiteQuality
SIO_000300: 8.32275e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 8.488e0

GenotypeQuality
all individuals: 288
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.217503217503217e-5
allele num: 31080
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.447e0

QD
type: SiteQuality
SIO_000300: 1.277e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 8.54664e5

VQSLOD
type: SiteQuality
SIO_000300: -2.934e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 212
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
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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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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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variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
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variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.623157232044489e-5
allele num: 38122
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2768
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

QD
type: SiteQuality
SIO_000300: 1.07e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 8.83e-1

FS
type: SiteQuality
SIO_000300: 1.882e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 9.7009e5

GenotypeQuality
all individuals: 668
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23753
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
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variant carriers: 0

GenotypeQuality
all individuals: 330
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 586
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variant carriers: 0

GenotypeQuality
all individuals: 415
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variant carriers: 0

GenotypeQuality
all individuals: 192
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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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variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3032
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.577784790154623e-4
allele num: 6338
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e0

QD
type: SiteQuality
SIO_000300: 1.766e1

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.306e-1

DP
type: SiteQuality
SIO_000300: 1.02559e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

FS
type: SiteQuality
SIO_000300: 2.539e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

GenotypeQuality
all individuals: 824
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
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variant carriers: 0

GenotypeQuality
all individuals: 570
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variant carriers: 0

GenotypeQuality
all individuals: 313
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variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 166
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GenotypeQuality
all individuals: 207
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.296680497925311e-4
allele num: 7712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3656
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.435e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.661e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.129277e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e0

QD
type: SiteQuality
SIO_000300: 1.441e1

GenotypeQuality
all individuals: 2316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 7.5e0
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GenotypeQuality
all individuals: 1840
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variant carriers: 10

GenotypeQuality
all individuals: 623
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.238850346878097e-4
allele num: 8072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.966027052532243e-4
allele num: 50864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12716
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

DP
type: SiteQuality
SIO_000300: 1.1736e6

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

QD
type: SiteQuality
SIO_000300: 1.095e1

FS
type: SiteQuality
SIO_000300: 2.739e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.300966405890474e-4
allele num: 13038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8744
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

FS
type: SiteQuality
SIO_000300: 8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.449e0

MQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

DP
type: SiteQuality
SIO_000300: 1.192983e6

QD
type: SiteQuality
SIO_000300: 1.339e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-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
all individuals: 660
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GenotypeQuality
all individuals: 1621
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 29573
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.471453796350795e-4
allele num: 6796
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13092
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.075e0

FS
type: SiteQuality
SIO_000300: 8.186999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.283e0

DP
type: SiteQuality
SIO_000300: 1.196963e6

VQSLOD
type: SiteQuality
SIO_000300: -8.070000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
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GenotypeQuality
all individuals: 217
bin: 7.5e0
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GenotypeQuality
all individuals: 1474
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.5e0
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GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 661
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8862
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.923121894182987e-4
allele num: 6842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.68569479190357e-5
allele num: 52764
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.226e1

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

FS
type: SiteQuality
SIO_000300: 1.168e0

DP
type: SiteQuality
SIO_000300: 1.204677e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

GenotypeQuality
all individuals: 160
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1886
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GenotypeQuality
all individuals: 406
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GenotypeQuality
all individuals: 1839
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 680
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.504438092372499e-4
allele num: 53176
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.522190461862494e-5
allele num: 13294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.231644722160232e-4
allele num: 8962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 1.213162e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.682e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

FS
type: SiteQuality
SIO_000300: 1.173e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

GenotypeQuality
all individuals: 1916
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 13755
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 5.75e1
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GenotypeQuality
all individuals: 1843
bin: 9.75e1
variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.49707690001499e-4
allele num: 13342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.873563218390805e-4
allele num: 6960
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.11333778668448e-4
allele num: 8982
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

QD
type: SiteQuality
SIO_000300: 1.044e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 1.788e0

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.21582e6

GenotypeQuality
all individuals: 672
bin: 4.25e1
variant carriers: 26

GenotypeQuality
all individuals: 28934
bin: 6.25e1
variant carriers: 56

GenotypeQuality
all individuals: 1336
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variant carriers: 22

GenotypeQuality
all individuals: 156
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variant carriers: 5

GenotypeQuality
all individuals: 6758
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variant carriers: 5382

GenotypeQuality
all individuals: 150
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variant carriers: 9

GenotypeQuality
all individuals: 171
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variant carriers: 42

GenotypeQuality
all individuals: 493
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variant carriers: 30

GenotypeQuality
all individuals: 202
bin: 9.25e1
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GenotypeQuality
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variant carriers: 16

GenotypeQuality
all individuals: 1681
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variant carriers: 11

GenotypeQuality
all individuals: 612
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variant carriers: 36

GenotypeQuality
all individuals: 352
bin: 8.25e1
variant carriers: 43

GenotypeQuality
all individuals: 12082
bin: 2.25e1
variant carriers: 19

European (Finnish)
type: Population
allele count: 236
allele frequency: 5.322507893549842e-2
allele num: 4434
num of homozygotes: 4

African
type: Population
allele count: 2145
allele frequency: 2.35973597359736e-1
allele num: 9090
num of homozygotes: 212

Other
type: Population
allele count: 39
allele frequency: 5.371900826446281e-2
allele num: 726
num of homozygotes: 0

South Asian
type: Population
allele count: 697
allele frequency: 5.098756400877835e-2
allele num: 13670
num of homozygotes: 19

European (Non-Finnish)
type: Population
allele count: 1275
allele frequency: 2.345388322725433e-2
allele num: 54362
num of homozygotes: 11

East Asian
type: Population
allele count: 1628
allele frequency: 2.162018592297477e-1
allele num: 7530
num of homozygotes: 155

Latino
type: Population
allele count: 220
allele frequency: 2.38870792616721e-2
allele num: 9210
num of homozygotes: 4

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.52e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 5.36e-1

DP
type: SiteQuality
SIO_000300: 1.300556e6

QD
type: SiteQuality
SIO_000300: 1.438e1

VQSLOD
type: SiteQuality
SIO_000300: 5.15e0

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 102
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
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variant carriers: 0

GenotypeQuality
all individuals: 178
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GenotypeQuality
all individuals: 31808
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GenotypeQuality
all individuals: 579
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GenotypeQuality
all individuals: 844
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GenotypeQuality
all individuals: 1717
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GenotypeQuality
all individuals: 12034
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GenotypeQuality
all individuals: 2114
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GenotypeQuality
all individuals: 765
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GenotypeQuality
all individuals: 1260
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variant carriers: 0

GenotypeQuality
all individuals: 163
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variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.807599146813203e-5
allele num: 55322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13854
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.253371e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.775e0

VQSLOD
type: SiteQuality
SIO_000300: -3.271e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

GenotypeQuality
all individuals: 29928
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
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variant carriers: 0

GenotypeQuality
all individuals: 11495
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 1668
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GenotypeQuality
all individuals: 751
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GenotypeQuality
all individuals: 2887
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GenotypeQuality
all individuals: 1715
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variant carriers: 1

GenotypeQuality
all individuals: 1875
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variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.039717196922437e-4
allele num: 9618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

FS
type: SiteQuality
SIO_000300: 1.2696e1

QD
type: SiteQuality
SIO_000300: 1.549e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.259555e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

VQSLOD
type: SiteQuality
SIO_000300: -1.548e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

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

GenotypeQuality
all individuals: 197
bin: 9.25e1
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GenotypeQuality
all individuals: 2196
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variant carriers: 0

GenotypeQuality
all individuals: 126
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variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
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variant carriers: 0

GenotypeQuality
all individuals: 2002
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GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 745
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GenotypeQuality
all individuals: 2878
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GenotypeQuality
all individuals: 750
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GenotypeQuality
all individuals: 29442
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GenotypeQuality
all individuals: 1723
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4704
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.35503459963282e-4
allele num: 14162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.760999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 1.260184e6

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.221e1

FS
type: SiteQuality
SIO_000300: 6.364e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.906e1

GenotypeQuality
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2884
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variant carriers: 0

GenotypeQuality
all individuals: 155
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GenotypeQuality
all individuals: 28612
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variant carriers: 0

GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 2155
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GenotypeQuality
all individuals: 192
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GenotypeQuality
all individuals: 2236
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GenotypeQuality
all individuals: 1724
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variant carriers: 9

GenotypeQuality
all individuals: 2334
bin: 3.75e1
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GenotypeQuality
all individuals: 752
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GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.0275380189067e-4
allele num: 9732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 6.257822277847309e-4
allele num: 4794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.769775844529414e-5
allele num: 57014
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14244
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.266913e6

QD
type: SiteQuality
SIO_000300: 6.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

FS
type: SiteQuality
SIO_000300: 3.479e0

VQSLOD
type: SiteQuality
SIO_000300: -4.391e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
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GenotypeQuality
all individuals: 372
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GenotypeQuality
all individuals: 2101
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GenotypeQuality
all individuals: 29448
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variant carriers: 0

GenotypeQuality
all individuals: 2624
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GenotypeQuality
all individuals: 1243
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GenotypeQuality
all individuals: 1678
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GenotypeQuality
all individuals: 103
bin: 2.5e0
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GenotypeQuality
all individuals: 2203
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GenotypeQuality
all individuals: 10957
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.072968490878939e-4
allele num: 4824
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.293995859213251e-4
allele num: 7728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.476e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 2.105e0

DP
type: SiteQuality
SIO_000300: 1.271804e6

GenotypeQuality
all individuals: 178
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.165509580672035e-4
allele num: 14404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.229e0

DP
type: SiteQuality
SIO_000300: 1.276817e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

QD
type: SiteQuality
SIO_000300: 1.113e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.755959762987461e-4
allele num: 14514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.288813e6

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

FS
type: SiteQuality
SIO_000300: 2.051e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

GenotypeQuality
all individuals: 387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
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variant carriers: 0

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

GenotypeQuality
all individuals: 674
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variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.127659574468085e-4
allele num: 9400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58420
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.084e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

DP
type: SiteQuality
SIO_000300: 1.291891e6

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3414
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 200
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GenotypeQuality
all individuals: 564
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.981899099936896e-5
allele num: 60218
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.706e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

DP
type: SiteQuality
SIO_000300: 1.320537e6

QD
type: SiteQuality
SIO_000300: 1.266e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.428e0

FS
type: SiteQuality
SIO_000300: 3.779e0

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1899
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variant carriers: 0

GenotypeQuality
all individuals: 1061
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variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.59877135726627e-5
allele num: 10418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 9.409999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.297151e6

QD
type: SiteQuality
SIO_000300: 1.136e1

GenotypeQuality
all individuals: 2300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 7.75e1
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GenotypeQuality
all individuals: 417
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.582411795681937e-5
allele num: 15192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60532
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.44e-1

FS
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

DP
type: SiteQuality
SIO_000300: 1.299249e6

MQRankSum
type: SiteQuality
SIO_000300: -1.232e0

QD
type: SiteQuality
SIO_000300: 1.02e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.301e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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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
all individuals: 1475
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GenotypeQuality
all individuals: 543
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.532888465204957e-5
allele num: 10490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5656
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7794
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.125e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 2.909e0

DP
type: SiteQuality
SIO_000300: 1.286941e6

VQSLOD
type: SiteQuality
SIO_000300: 9.74e-1

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28009
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GenotypeQuality
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GenotypeQuality
all individuals: 183
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GenotypeQuality
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GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 2940
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GenotypeQuality
all individuals: 1729
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3610
bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 940
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.646361540994402e-5
allele num: 60740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15292
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.2364e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.111e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.613e0

DP
type: SiteQuality
SIO_000300: 1.284058e6

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 1.611e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.706e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25893
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.646469968387776e-5
allele num: 60736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15278
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.243e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

DP
type: SiteQuality
SIO_000300: 1.279575e6

GenotypeQuality
all individuals: 3295
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1294
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.648695881557688e-5
allele num: 60654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.372e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e0

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

DP
type: SiteQuality
SIO_000300: 1.278802e6

QD
type: SiteQuality
SIO_000300: 1.432e1

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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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: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.596306068601583e-5
allele num: 15160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.622078008078935e-5
allele num: 60404
num of homozygotes: 0

African
type: Population
allele count: 66
allele frequency: 6.919689662403019e-3
allele num: 9538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.768607499528924e-4
allele num: 10614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

DP
type: SiteQuality
SIO_000300: 1.272077e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.372e1

VQSLOD
type: SiteQuality
SIO_000300: 6.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-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
all individuals: 3711
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.34246941640484e-5
allele num: 59836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.270927e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.994e0

MQRankSum
type: SiteQuality
SIO_000300: 9.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

FS
type: SiteQuality
SIO_000300: 2.391e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.08e-1

QD
type: SiteQuality
SIO_000300: 1.506e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1745
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variant carriers: 1

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59124
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14598
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.361542782250516e-5
allele num: 10682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.278175e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.278e0

MQRankSum
type: SiteQuality
SIO_000300: -2.416e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.591e0

QD
type: SiteQuality
SIO_000300: 1.61e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

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: 2

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
all individuals: 890
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59834
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.371553970648745e-4
allele num: 14582
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.484e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: -1.054e0

VQSLOD
type: SiteQuality
SIO_000300: -4.726e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 1.309038e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.662344570782632e-5
allele num: 60156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9260
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

FS
type: SiteQuality
SIO_000300: 3.575e0

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.317404e6

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1476
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7640
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.63907556138338e-5
allele num: 61010
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 138
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61596
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.893699158968702e-5
allele num: 14506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.089e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

FS
type: SiteQuality
SIO_000300: 1.0572e1

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.825e0

DP
type: SiteQuality
SIO_000300: 1.36971e6

MQ
type: SiteQuality
SIO_000300: 5.763e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 2.242e1

GenotypeQuality
all individuals: 1949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 237
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.344803614876608e-4
allele num: 11508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.174723000121759e-4
allele num: 65704
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

DP
type: SiteQuality
SIO_000300: 1.475574e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.56e0

QD
type: SiteQuality
SIO_000300: 1.413e1

GenotypeQuality
all individuals: 495
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 469
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 190
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 787
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6896
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

South Asian
type: Population
allele count: 97
allele frequency: 6.769016050244243e-3
allele num: 14330
num of homozygotes: 1

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.478363e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.332e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

GenotypeQuality
all individuals: 39433
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

Latino
type: Population
allele count: 29
allele frequency: 2.519110493398193e-3
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.042935824483462e-5
allele num: 65726
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.304147465437788e-3
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

QD
type: SiteQuality
SIO_000300: 1.65e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e0

DP
type: SiteQuality
SIO_000300: 1.479995e6

GenotypeQuality
all individuals: 25530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3075
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
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: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65220
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.471e1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.991191e6

GenotypeQuality
all individuals: 2422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25514
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8796
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3075
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7704
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533366045142296e-5
allele num: 65216
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: 11932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
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: 1.99064e6

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.51e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.45e0

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8786
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25609
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7700
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3982
bin: 7.75e1
variant carriers: 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: 6
allele frequency: 9.20951650038373e-5
allele num: 65150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.691761123329386e-4
allele num: 11822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 1.991153e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

QD
type: SiteQuality
SIO_000300: 1.511e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.45e-1

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 231
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2913
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3067
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7692
bin: 9.75e1
variant carriers: 2

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: 11520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
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: 3
allele frequency: 2.490866821653935e-4
allele num: 12044
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65222
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

FS
type: SiteQuality
SIO_000300: 4.311e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.392e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

DP
type: SiteQuality
SIO_000300: 1.99325e6

GenotypeQuality
all individuals: 249
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7690
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2663
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8772
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
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: 4
allele frequency: 6.132335806708775e-5
allele num: 65228
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

QD
type: SiteQuality
SIO_000300: 1.478e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.994073e6

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

GenotypeQuality
all individuals: 1368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7686
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12140
num of homozygotes: 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: 8618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
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: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

QD
type: SiteQuality
SIO_000300: 1.35e1

VQSLOD
type: SiteQuality
SIO_000300: -1.259e-1

FS
type: SiteQuality
SIO_000300: 4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.99354e6

GenotypeQuality
all individuals: 3983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8778
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12404
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: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531534291052777e-5
allele num: 65294
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.503e1

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.99678e6

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

GenotypeQuality
all individuals: 3063
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26494
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7684
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2665
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8801
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65526
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13168
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

FS
type: SiteQuality
SIO_000300: 1.274e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 2.008013e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.206e1

VQSLOD
type: SiteQuality
SIO_000300: -4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
all individuals: 236
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8859
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7697
bin: 9.75e1
variant carriers: 139

GenotypeQuality
all individuals: 2679
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 131
allele frequency: 1.263990737167117e-2
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.035317292809905e-5
allele num: 14214
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.465603881476347e-4
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.555808656036447e-5
allele num: 65850
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: 2.037852e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeQuality
all individuals: 7697
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 374
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27512
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14214
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: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65850
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.037852e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.31e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

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

GenotypeQuality
all individuals: 1730
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 316
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variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7580
bin: 9.75e1
variant carriers: 65

GenotypeQuality
all individuals: 2689
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8893
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.929384526336099e-4
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 6.827906412162777e-4
allele num: 65906
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.419110976716057e-3
allele num: 6614
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.29e0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 2.020943e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28928
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8997
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15326
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.891844997108155e-4
allele num: 10374
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.397e1

DP
type: SiteQuality
SIO_000300: 2.023543e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29340
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
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: 894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.667e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 2.030945e6

FS
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.119e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 6.25e0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4021
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2724
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3083
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7528
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
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: 4.611e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.584e0

DP
type: SiteQuality
SIO_000300: 2.034633e6

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

QD
type: SiteQuality
SIO_000300: 1.615e1

VQSLOD
type: SiteQuality
SIO_000300: -5.956e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.678e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30078
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2735
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7526
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3081
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9098
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 4.515e0

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.13e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

QD
type: SiteQuality
SIO_000300: 1.414e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 2.039358e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-1

GenotypeQuality
all individuals: 2729
bin: 7.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7527
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4010
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 1
allele frequency: 6.153846153846154e-5
allele num: 16250
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.295e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.683e0

DP
type: SiteQuality
SIO_000300: 2.040068e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.194e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3083
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.353e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

DP
type: SiteQuality
SIO_000300: 2.040363e6

QD
type: SiteQuality
SIO_000300: 1.653e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

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

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4010
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3083
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7525
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2725
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 3.403e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.223e1

VQSLOD
type: SiteQuality
SIO_000300: -1.336e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.27e-1

DP
type: SiteQuality
SIO_000300: 2.040547e6

MQ
type: SiteQuality
SIO_000300: 6.0e1