18-43490557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490557
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490557
    reference: chr 18
allele count: 109
allele frequency: 9.032899643656253e-4
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.759A>G
  hgvsp: ENST00000587884.1:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4169A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.759A>G
  hgvsp: ENST00000590884.1:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.759A>G
  hgvsp: ENST00000592272.1:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.913A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4134A>G
  hgvsp: ENST00000282041.5:c.4134A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19331
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu1378Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

18-43490562-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490562
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490562
    reference: chr 18
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4164A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.754A>T
  hgvsp: ENSP00000466990.1:p.Ser252Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.754A>T
  hgvsp: ENSP00000466403.1:p.Ser252Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.754A>T
  hgvsp: ENSP00000467464.1:p.Ser252Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.908A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4129A>T
  hgvsp: ENSP00000282041.4:p.Ser1377Cys
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20246
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser1377Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

18-43490579-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490579
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490579
    reference: chr 18
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.737G>C
  hgvsp: ENSP00000466990.1:p.Arg246Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.737G>C
  hgvsp: ENSP00000466403.1:p.Arg246Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4112G>C
  hgvsp: ENSP00000282041.4:p.Arg1371Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.737G>C
  hgvsp: ENSP00000467464.1:p.Arg246Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4147G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.891G>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1371Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum

18-43490580-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490580
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490580
    reference: chr 18
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.890C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4111C>T
  hgvsp: ENSP00000282041.4:p.Arg1371Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.736C>T
  hgvsp: ENSP00000467464.1:p.Arg246Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.736C>T
  hgvsp: ENSP00000466403.1:p.Arg246Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.736C>T
  hgvsp: ENSP00000466990.1:p.Arg246Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4146C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1371Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-43490582-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490582
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490582
    reference: chr 18
allele count: 3
allele frequency: 2.485954357877989e-5
allele num: 120678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.888T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.734T>G
  hgvsp: ENSP00000466403.1:p.Leu245Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4109T>G
  hgvsp: ENSP00000282041.4:p.Leu1370Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4144T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.734T>G
  hgvsp: ENSP00000466990.1:p.Leu245Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.734T>G
  hgvsp: ENSP00000467464.1:p.Leu245Arg
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu1370Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

18-43490589-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490589
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490589
    reference: chr 18
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4137A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.727A>G
  hgvsp: ENSP00000467464.1:p.Lys243Glu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.727A>G
  hgvsp: ENSP00000466403.1:p.Lys243Glu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4102A>G
  hgvsp: ENSP00000282041.4:p.Lys1368Glu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.727A>G
  hgvsp: ENSP00000466990.1:p.Lys243Glu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.881A>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys1368Glu
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: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

18-43490600-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490600
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490600
    reference: chr 18
allele count: 2
allele frequency: 1.657769967839263e-5
allele num: 120644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.716A>G
  hgvsp: ENSP00000466990.1:p.His239Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4126A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.870A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4091A>G
  hgvsp: ENSP00000282041.4:p.His1364Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.716A>G
  hgvsp: ENSP00000467464.1:p.His239Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.716A>G
  hgvsp: ENSP00000466403.1:p.His239Arg
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20255
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27864
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His1364Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

18-43490602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490602
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490602
    reference: chr 18
allele count: 26348
allele frequency: 2.185141568113586e-1
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.714C>T
  hgvsp: ENST00000587884.1:c.714C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.868C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4089C>T
  hgvsp: ENST00000282041.5:c.4089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.714C>T
  hgvsp: ENST00000592272.1:c.714C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.714C>T
  hgvsp: ENST00000590884.1:c.714C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4124C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18335
  bin: 2.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.75e1
  variant carriers: 1192
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 1879
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 2.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 8.25e1
  variant carriers: 2103
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 7.25e1
  variant carriers: 2081
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 9.25e1
  variant carriers: 1658
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 8.75e1
  variant carriers: 2007
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 9.75e1
  variant carriers: 5683
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 530
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 865
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 7.75e1
  variant carriers: 2261
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 3.25e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 6.25e1
  variant carriers: 1523
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 17
hgvs: p.His1363His
num of homozygotes: 3532
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

18-43490611-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490611
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490611
    reference: chr 18
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.859T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.705T>C
  hgvsp: ENST00000590884.1:c.705T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4080T>C
  hgvsp: ENST00000282041.5:c.4080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4115T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.705T>C
  hgvsp: ENST00000587884.1:c.705T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.705T>C
  hgvsp: ENST00000592272.1:c.705T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala1360Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

18-43490617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490617
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490617
    reference: chr 18
allele count: 1
allele frequency: 8.302475798283047e-6
allele num: 120446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.699G>A
  hgvsp: ENST00000590884.1:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.699G>A
  hgvsp: ENST00000587884.1:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.853G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4074G>A
  hgvsp: ENST00000282041.5:c.4074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4109G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.699G>A
  hgvsp: ENST00000592272.1:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu1358Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

18-43490619-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490619
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490619
    reference: chr 18
allele count: 6
allele frequency: 4.982312789596931e-5
allele num: 120426
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4072G>C
  hgvsp: ENSP00000282041.4:p.Glu1358Gln
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.851G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4107G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.697G>C
  hgvsp: ENSP00000467464.1:p.Glu233Gln
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.697G>C
  hgvsp: ENSP00000466403.1:p.Glu233Gln
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.697G>C
  hgvsp: ENSP00000466990.1:p.Glu233Gln
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10845
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1358Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

18-43490619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490619
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490619
    reference: chr 18
allele count: 5
allele frequency: 4.151927324664109e-5
allele num: 120426
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4072G>A
  hgvsp: ENSP00000282041.4:p.Glu1358Lys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4107G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.851G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.697G>A
  hgvsp: ENSP00000466990.1:p.Glu233Lys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.697G>A
  hgvsp: ENSP00000466403.1:p.Glu233Lys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.697G>A
  hgvsp: ENSP00000467464.1:p.Glu233Lys
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Glu1358Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

18-43490620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490620
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490620
    reference: chr 18
allele count: 5
allele frequency: 4.152203158996163e-5
allele num: 120418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.696C>T
  hgvsp: ENST00000590884.1:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4071C>T
  hgvsp: ENST00000282041.5:c.4071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.696C>T
  hgvsp: ENST00000587884.1:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.850C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.696C>T
  hgvsp: ENST00000592272.1:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4106C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr1357Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

18-43490627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490627
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490627
    reference: chr 18
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.689G>A
  hgvsp: ENSP00000467464.1:p.Arg230His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.689G>A
  hgvsp: ENSP00000466403.1:p.Arg230His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4064G>A
  hgvsp: ENSP00000282041.4:p.Arg1355His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4099G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.689G>A
  hgvsp: ENSP00000466990.1:p.Arg230His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.843G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1355His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

18-43490629-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490629
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490629
    reference: chr 18
allele count: 2
allele frequency: 1.66159879035608e-5
allele num: 120366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4097A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4062A>G
  hgvsp: ENST00000282041.5:c.4062A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.687A>G
  hgvsp: ENST00000587884.1:c.687A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.687A>G
  hgvsp: ENST00000592272.1:c.687A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.841A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.687A>G
  hgvsp: ENST00000590884.1:c.687A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12788
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg1354Arg
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

18-43490633-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490633
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490633
    reference: chr 18
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.683A>G
  hgvsp: ENSP00000467464.1:p.Lys228Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.683A>G
  hgvsp: ENSP00000466403.1:p.Lys228Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4058A>G
  hgvsp: ENSP00000282041.4:p.Lys1353Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.837A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.683A>G
  hgvsp: ENSP00000466990.1:p.Lys228Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4093A>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys1353Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

18-43490651-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490651
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490651
    reference: chr 18
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.665A>G
  hgvsp: ENSP00000467464.1:p.Asn222Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.665A>G
  hgvsp: ENSP00000466990.1:p.Asn222Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.665A>G
  hgvsp: ENSP00000466403.1:p.Asn222Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4040A>G
  hgvsp: ENSP00000282041.4:p.Asn1347Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.819A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4075A>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn1347Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

18-43490652-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490652
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490652
    reference: chr 18
allele count: 543
allele frequency: 4.516343674623638e-3
allele num: 120230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.664A>C
  hgvsp: ENSP00000466990.1:p.Asn222His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.664A>C
  hgvsp: ENSP00000466403.1:p.Asn222His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.664A>C
  hgvsp: ENSP00000467464.1:p.Asn222His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.818A>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4039A>C
  hgvsp: ENSP00000282041.4:p.Asn1347His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4074A>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 30152
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 12696
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 10801
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 9.75e1
  variant carriers: 540
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn1347His
num of homozygotes: 3
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

18-43490654-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490654
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490654
    reference: chr 18
allele count: 20
allele frequency: 1.663755095249979e-4
allele num: 120210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.662T>C
  hgvsp: ENSP00000466990.1:p.Ile221Thr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.662T>C
  hgvsp: ENSP00000466403.1:p.Ile221Thr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.662T>C
  hgvsp: ENSP00000467464.1:p.Ile221Thr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4037T>C
  hgvsp: ENSP00000282041.4:p.Ile1346Thr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4072T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.816T>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile1346Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

18-43490654-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490654
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490654
    reference: chr 18
allele count: 2
allele frequency: 1.663755095249979e-5
allele num: 120210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.662T>A
  hgvsp: ENSP00000467464.1:p.Ile221Asn
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.662T>A
  hgvsp: ENSP00000466403.1:p.Ile221Asn
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4072T>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.662T>A
  hgvsp: ENSP00000466990.1:p.Ile221Asn
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4037T>A
  hgvsp: ENSP00000282041.4:p.Ile1346Asn
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.816T>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile1346Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

18-43490657-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490657
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490657
    reference: chr 18
allele count: 17
allele frequency: 1.414544849392578e-4
allele num: 120180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4069A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4034A>G
  hgvsp: ENSP00000282041.4:p.His1345Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.659A>G
  hgvsp: ENSP00000467464.1:p.His220Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.813A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.659A>G
  hgvsp: ENSP00000466990.1:p.His220Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.659A>G
  hgvsp: ENSP00000466403.1:p.His220Arg
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His1345Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

18-43490661-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490661
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490661
    reference: chr 18
allele count: 1
allele frequency: 8.324315325064513e-6
allele num: 120130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.655G>C
  hgvsp: ENSP00000467464.1:p.Ala219Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4030G>C
  hgvsp: ENSP00000282041.4:p.Ala1344Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4065G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.655G>C
  hgvsp: ENSP00000466403.1:p.Ala219Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.655G>C
  hgvsp: ENSP00000466990.1:p.Ala219Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.809G>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1344Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

18-43490668-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490668
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490668
    reference: chr 18
allele count: 2
allele frequency: 1.665611779206503e-5
allele num: 120076
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.802A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.648A>G
  hgvsp: ENST00000587884.1:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4058A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4023A>G
  hgvsp: ENST00000282041.5:c.4023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.648A>G
  hgvsp: ENST00000590884.1:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.648A>G
  hgvsp: ENST00000592272.1:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln1341Gln
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

18-43490675-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490675
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490675
    reference: chr 18
allele count: 1
allele frequency: 8.335695113615524e-6
allele num: 119966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.641T>A
  hgvsp: ENSP00000466403.1:p.Phe214Tyr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.641T>A
  hgvsp: ENSP00000467464.1:p.Phe214Tyr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.795T>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4016T>A
  hgvsp: ENSP00000282041.4:p.Phe1339Tyr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4051T>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.641T>A
  hgvsp: ENSP00000466990.1:p.Phe214Tyr
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe1339Tyr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-43490677-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490677
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490677
    reference: chr 18
allele count: 1
allele frequency: 8.338753523123364e-6
allele num: 119922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4049G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.639G>T
  hgvsp: ENSP00000466990.1:p.Arg213Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.639G>T
  hgvsp: ENSP00000467464.1:p.Arg213Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.639G>T
  hgvsp: ENSP00000466403.1:p.Arg213Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.793G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4014G>T
  hgvsp: ENSP00000282041.4:p.Arg1338Ser
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1338Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

18-43490677-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490677
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490677
    reference: chr 18
allele count: 1
allele frequency: 8.338753523123364e-6
allele num: 119922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.639G>C
  hgvsp: ENSP00000466403.1:p.Arg213Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.639G>C
  hgvsp: ENSP00000467464.1:p.Arg213Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.4014G>C
  hgvsp: ENSP00000282041.4:p.Arg1338Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4049G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.793G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.639G>C
  hgvsp: ENSP00000466990.1:p.Arg213Ser
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1338Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-43490692-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490692
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490692
    reference: chr 18
allele count: 2
allele frequency: 1.674873547047198e-5
allele num: 119412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.624T>G
  hgvsp: ENST00000587884.1:c.624T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4034T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.624T>G
  hgvsp: ENST00000592272.1:c.624T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3999T>G
  hgvsp: ENST00000282041.5:c.3999T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.624T>G
  hgvsp: ENST00000590884.1:c.624T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.778T>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly1333Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

18-43490700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490700
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490700
    reference: chr 18
allele count: 1
allele frequency: 8.423464402439436e-6
allele num: 118716
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3991A>G
  hgvsp: ENSP00000282041.4:p.Ile1331Val
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4026A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.616A>G
  hgvsp: ENSP00000466403.1:p.Ile206Val
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.770A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.616A>G
  hgvsp: ENSP00000466990.1:p.Ile206Val
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.616A>G
  hgvsp: ENSP00000467464.1:p.Ile206Val
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10257
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile1331Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

18-43490727-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490727
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490727
    reference: chr 18
allele count: 97
allele frequency: 8.427747271842636e-4
allele num: 115096
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3984-20C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.763-20C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.609-20C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4019-20C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.609-20C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.609-20C>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10836
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 21648
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 9.75e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7523
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

18-43490730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490730
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490730
    reference: chr 18
allele count: 1
allele frequency: 8.720524626761546e-6
allele num: 114672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.609-23G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.609-23G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3984-23G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.609-23G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.763-23G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4019-23G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10269
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS

18-43490737-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490737
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490737
    reference: chr 18
allele count: 1
allele frequency: 8.799873281824741e-6
allele num: 113638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4019-30G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3984-30G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.609-30G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.609-30G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.609-30G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.763-30G>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15643
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1255
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5985
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4087
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-43490739-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490739
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490739
    reference: chr 18
allele count: 1
allele frequency: 8.802042073761113e-6
allele num: 113610
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3984-32A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.609-32A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.609-32A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.609-32A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4019-32A>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.763-32A>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14486
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 494
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genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

18-43490740-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490740
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490740
    reference: chr 18
allele count: 2
allele frequency: 1.762891141472014e-5
allele num: 113450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.609-33A>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4019-33A>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3984-33A>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.763-33A>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.609-33A>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.609-33A>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6628
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

18-43490746-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490746
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490746
    reference: chr 18
allele count: 1
allele frequency: 8.905671131376461e-6
allele num: 112288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.609-39G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.609-39G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.763-39G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.609-39G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4019-39G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3984-39G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

18-43490749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43490749
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43490749
    reference: chr 18
allele count: 1
allele frequency: 8.939586275947149e-6
allele num: 111862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.609-42C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.609-42C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.763-42C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3984-42C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4019-42C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.609-42C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

18-43492212-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492212
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492212
    reference: chr 18
allele count: 1
allele frequency: 8.996365468350786e-6
allele num: 111156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.608+43C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4018+43C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.762+43C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.608+43C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3983+43C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.608+43C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22208
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6961
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-43492216-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492216
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492216
    reference: chr 18
allele count: 1
allele frequency: 8.986502273585076e-6
allele num: 111278
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3983+39T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.608+39T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4018+39T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.608+39T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.762+39T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.608+39T>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6956
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29253
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

18-43492223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492223
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492223
    reference: chr 18
allele count: 19
allele frequency: 1.705994325324139e-4
allele num: 111372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3983+32G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.608+32G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.608+32G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4018+32G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.762+32G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.608+32G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12513
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22488
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6967
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

18-43492224-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492224
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492222
    reference: chr 18
allele count: 33
allele frequency: 2.959694344293171e-4
allele num: 111498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.608+29_608+30delTG
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3983+29_3983+30delTG
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.762+29_762+30delTG
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4018+29_4018+30delTG
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.608+29_608+30delTG
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.608+29_608+30delTG
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22512
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: TCA
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

18-43492234-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492234
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492234
    reference: chr 18
allele count: 3
allele frequency: 2.677567340818622e-5
allele num: 112042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.608+21G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.608+21G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.762+21G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4018+21G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3983+21G>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.608+21G>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12565
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

18-43492237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492237
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492237
    reference: chr 18
allele count: 2
allele frequency: 1.781991196963487e-5
allele num: 112234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.608+18G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.608+18G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3983+18G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.762+18G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.608+18G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4018+18G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6963
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8241
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-43492237-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492237
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492237
    reference: chr 18
allele count: 1
allele frequency: 8.909955984817435e-6
allele num: 112234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.608+18G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.608+18G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4018+18G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.608+18G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.762+18G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3983+18G>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

18-43492238-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492238
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492238
    reference: chr 18
allele count: 1
allele frequency: 8.89632226037756e-6
allele num: 112406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.608+17T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.608+17T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4018+17T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.762+17T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3983+17T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.608+17T>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-43492256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492256
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492256
    reference: chr 18
allele count: 2
allele frequency: 1.742980147456121e-5
allele num: 114746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.607G>A
  hgvsp: ENSP00000466403.1:p.Gly203Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.761G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4017G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3982G>A
  hgvsp: ENSP00000282041.4:p.Gly1328Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.607G>A
  hgvsp: ENSP00000467464.1:p.Gly203Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.607G>A
  hgvsp: ENSP00000466990.1:p.Gly203Arg
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly1328Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/18-43492269-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492269
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492269
    reference: chr 18
allele count: 1
allele frequency: 8.542481761801439e-6
allele num: 117062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.594G>T
  hgvsp: ENST00000592272.1:c.594G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3969G>T
  hgvsp: ENST00000282041.5:c.3969G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.748G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4004G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.594G>T
  hgvsp: ENST00000590884.1:c.594G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.594G>T
  hgvsp: ENST00000587884.1:c.594G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6968
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1323Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

18-43492269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492269
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492269
    reference: chr 18
allele count: 4
allele frequency: 3.416992704720576e-5
allele num: 117062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.594G>A
  hgvsp: ENST00000590884.1:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.594G>A
  hgvsp: ENST00000587884.1:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.594G>A
  hgvsp: ENST00000592272.1:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3969G>A
  hgvsp: ENST00000282041.5:c.3969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.748G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4004G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23197
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10341
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6968
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1323Pro
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-43492270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492270
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492270
    reference: chr 18
allele count: 10
allele frequency: 8.507886811073865e-5
allele num: 117538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.747C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.593C>T
  hgvsp: ENSP00000467464.1:p.Pro198Leu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.593C>T
  hgvsp: ENSP00000466403.1:p.Pro198Leu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4003C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3968C>T
  hgvsp: ENSP00000282041.4:p.Pro1323Leu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.593C>T
  hgvsp: ENSP00000466990.1:p.Pro198Leu
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro1323Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

18-43492273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492273
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492273
    reference: chr 18
allele count: 81
allele frequency: 6.856504367847226e-4
allele num: 118136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.4000G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3965G>A
  hgvsp: ENSP00000282041.4:p.Arg1322His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.590G>A
  hgvsp: ENSP00000466990.1:p.Arg197His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.590G>A
  hgvsp: ENSP00000467464.1:p.Arg197His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.744G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.590G>A
  hgvsp: ENSP00000466403.1:p.Arg197His
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10834
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8599
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1322His
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

18-43492274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492274
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492274
    reference: chr 18
allele count: 12
allele frequency: 1.012384841224311e-4
allele num: 118532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.589C>T
  hgvsp: ENSP00000466990.1:p.Arg197Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.743C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3964C>T
  hgvsp: ENSP00000282041.4:p.Arg1322Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.589C>T
  hgvsp: ENSP00000467464.1:p.Arg197Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.589C>T
  hgvsp: ENSP00000466403.1:p.Arg197Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3999C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23430
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1322Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

18-43492282-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492282
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492282
    reference: chr 18
allele count: 1
allele frequency: 8.366800535475235e-6
allele num: 119520
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3991A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.581A>G
  hgvsp: ENSP00000467464.1:p.Tyr194Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3956A>G
  hgvsp: ENSP00000282041.4:p.Tyr1319Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.735A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.581A>G
  hgvsp: ENSP00000466990.1:p.Tyr194Cys
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.581A>G
  hgvsp: ENSP00000466403.1:p.Tyr194Cys
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6939
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33555
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr1319Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

18-43492296-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492296
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492296
    reference: chr 18
allele count: 6
allele frequency: 4.985044865403788e-5
allele num: 120360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3977G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.567G>A
  hgvsp: ENST00000587884.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3942G>A
  hgvsp: ENST00000282041.5:c.3942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.567G>A
  hgvsp: ENST00000590884.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.567G>A
  hgvsp: ENST00000592272.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.721G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys1314Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

18-43492306-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492306
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492306
    reference: chr 18
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.557T>C
  hgvsp: ENSP00000467464.1:p.Ile186Thr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3932T>C
  hgvsp: ENSP00000282041.4:p.Ile1311Thr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.711T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.557T>C
  hgvsp: ENSP00000466403.1:p.Ile186Thr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.557T>C
  hgvsp: ENSP00000466990.1:p.Ile186Thr
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3967T>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13128
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6956
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile1311Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

18-43492318-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492318
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492318
    reference: chr 18
allele count: 4168
allele frequency: 3.500697115788413e-2
allele num: 119062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3955T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3920T>C
  hgvsp: ENSP00000282041.4:p.Leu1307Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.545T>C
  hgvsp: ENSP00000466990.1:p.Leu182Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.545T>C
  hgvsp: ENSP00000467464.1:p.Leu182Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.699T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.545T>C
  hgvsp: ENSP00000466403.1:p.Leu182Pro
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12825
  bin: 3.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 23662
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 276
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 3.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 9.75e1
  variant carriers: 1557
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 215
genotype quality: GenotypeQuality
  all individuals: 8752
  bin: 6.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 7.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 8.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.25e1
  variant carriers: 45
hgvs: p.Leu1307Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD

18-43492319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492319
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492319
    reference: chr 18
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.544C>T
  hgvsp: ENSP00000466990.1:p.Leu182Phe
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.544C>T
  hgvsp: ENSP00000466403.1:p.Leu182Phe
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.544C>T
  hgvsp: ENSP00000467464.1:p.Leu182Phe
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3954C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.698C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3919C>T
  hgvsp: ENSP00000282041.4:p.Leu1307Phe
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1307Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

18-43492324-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492324
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492324
    reference: chr 18
allele count: 697
allele frequency: 5.982421807944518e-3
allele num: 116508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3949A>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.539A>C
  hgvsp: ENSP00000467464.1:p.His180Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.539A>C
  hgvsp: ENSP00000466403.1:p.His180Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3914A>C
  hgvsp: ENSP00000282041.4:p.His1305Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.539A>C
  hgvsp: ENSP00000466990.1:p.His180Pro
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.693A>C
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 4.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 5.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13255
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 23574
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 5.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 7.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 4.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 3.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 9.75e1
  variant carriers: 498
genotype quality: GenotypeQuality
  all individuals: 33837
  bin: 6.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.25e1
  variant carriers: 11
hgvs: p.His1305Pro
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

18-43492326-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492326
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492326
    reference: chr 18
allele count: 3
allele frequency: 2.486531288852051e-5
allele num: 120650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.537T>C
  hgvsp: ENST00000587884.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.537T>C
  hgvsp: ENST00000590884.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.691T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3947T>C
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.537T>C
  hgvsp: ENST00000592272.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3912T>C
  hgvsp: ENST00000282041.5:c.3912T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp1304Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-43492340-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492340
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492340
    reference: chr 18
allele count: 16
allele frequency: 1.325776407808823e-4
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.677G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3898G>A
  hgvsp: ENSP00000282041.4:p.Val1300Ile
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.523G>A
  hgvsp: ENSP00000467464.1:p.Val175Ile
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3933G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.523G>A
  hgvsp: ENSP00000466403.1:p.Val175Ile
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.523G>A
  hgvsp: ENSP00000466990.1:p.Val175Ile
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14400
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val1300Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/18-43492346-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492346
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492346
    reference: chr 18
allele count: 2
allele frequency: 1.657000828500414e-5
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3892G>T
  hgvsp: ENSP00000282041.4:p.Ala1298Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3927G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.517G>T
  hgvsp: ENSP00000467464.1:p.Ala173Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.517G>T
  hgvsp: ENSP00000466990.1:p.Ala173Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.517G>T
  hgvsp: ENSP00000466403.1:p.Ala173Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.671G>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1298Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

18-43492352-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492352
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492352
    reference: chr 18
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3886C>G
  hgvsp: ENSP00000282041.4:p.His1296Asp
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3921C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.511C>G
  hgvsp: ENSP00000466990.1:p.His171Asp
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.511C>G
  hgvsp: ENSP00000466403.1:p.His171Asp
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.511C>G
  hgvsp: ENSP00000467464.1:p.His171Asp
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.665C>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His1296Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

18-43492360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492360
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492360
    reference: chr 18
allele count: 2
allele frequency: 1.656836105772417e-5
allele num: 120712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.657G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.503G>A
  hgvsp: ENSP00000467464.1:p.Arg168His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3913G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3878G>A
  hgvsp: ENSP00000282041.4:p.Arg1293His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.503G>A
  hgvsp: ENSP00000466990.1:p.Arg168His
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.503G>A
  hgvsp: ENSP00000466403.1:p.Arg168His
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1293His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

18-43492361-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492361
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492361
    reference: chr 18
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.502C>A
  hgvsp: ENSP00000467464.1:p.Arg168Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3912C>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.502C>A
  hgvsp: ENSP00000466990.1:p.Arg168Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.502C>A
  hgvsp: ENSP00000466403.1:p.Arg168Ser
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.656C>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3877C>A
  hgvsp: ENSP00000282041.4:p.Arg1293Ser
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg1293Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

18-43492380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492380
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492380
    reference: chr 18
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3858C>T
  hgvsp: ENST00000282041.5:c.3858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.483C>T
  hgvsp: ENST00000590884.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.483C>T
  hgvsp: ENST00000592272.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3893C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.637C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.483C>T
  hgvsp: ENST00000587884.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu1286Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

18-43492384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492384
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492384
    reference: chr 18
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3889C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3854C>T
  hgvsp: ENSP00000282041.4:p.Ser1285Phe
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.479C>T
  hgvsp: ENSP00000466403.1:p.Ser160Phe
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.633C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.479C>T
  hgvsp: ENSP00000466990.1:p.Ser160Phe
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.479C>T
  hgvsp: ENSP00000467464.1:p.Ser160Phe
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1285Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

18-43492386-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492386
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492386
    reference: chr 18
allele count: 5
allele frequency: 4.141953013685013e-5
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3852A>G
  hgvsp: ENST00000282041.5:c.3852A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.477A>G
  hgvsp: ENST00000587884.1:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.631A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3887A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.477A>G
  hgvsp: ENST00000592272.1:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.477A>G
  hgvsp: ENST00000590884.1:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1284Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

18-43492392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492392
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492392
    reference: chr 18
allele count: 5
allele frequency: 4.14270800536895e-5
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.471C>T
  hgvsp: ENST00000587884.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3881C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.625C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.471C>T
  hgvsp: ENST00000592272.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3846C>T
  hgvsp: ENST00000282041.5:c.3846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.471C>T
  hgvsp: ENST00000590884.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26130
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile1282Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

18-43492408-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492408
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492408
    reference: chr 18
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.455A>G
  hgvsp: ENSP00000466990.1:p.Gln152Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.455A>G
  hgvsp: ENSP00000466403.1:p.Gln152Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3865A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.609A>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3830A>G
  hgvsp: ENSP00000282041.4:p.Gln1277Arg
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.455A>G
  hgvsp: ENSP00000467464.1:p.Gln152Arg
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln1277Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

18-43492410-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492410
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492410
    reference: chr 18
allele count: 3
allele frequency: 2.487850994311114e-5
allele num: 120586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.453C>G
  hgvsp: ENST00000587884.1:c.453C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.607C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3828C>G
  hgvsp: ENST00000282041.5:c.3828C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3863C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.453C>G
  hgvsp: ENST00000590884.1:c.453C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.453C>G
  hgvsp: ENST00000592272.1:c.453C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr1276Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

18-43492413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492413
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492413
    reference: chr 18
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.450G>A
  hgvsp: ENST00000587884.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3825G>A
  hgvsp: ENST00000282041.5:c.3825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.450G>A
  hgvsp: ENST00000590884.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.604G>A
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.450G>A
  hgvsp: ENST00000592272.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3860G>A
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln1275Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

18-43492415-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492415
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492415
    reference: chr 18
allele count: 1
allele frequency: 8.301510874979247e-6
allele num: 120460
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3823C>G
  hgvsp: ENSP00000282041.4:p.Gln1275Glu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.448C>G
  hgvsp: ENSP00000466990.1:p.Gln150Glu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.602C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.448C>G
  hgvsp: ENSP00000467464.1:p.Gln150Glu
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3858C>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.448C>G
  hgvsp: ENSP00000466403.1:p.Gln150Glu
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14069
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln1275Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-43492425-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492425
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492425
    reference: chr 18
allele count: 1
allele frequency: 8.39545973537511e-6
allele num: 119112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.596-4G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.442-4G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3852-4G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.442-4G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3817-4G>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.442-4G>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
hgvs: c.3817-4G>T
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

18-43492432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492432
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492432
    reference: chr 18
allele count: 6
allele frequency: 5.059021922428331e-5
allele num: 118600
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3817-11C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.442-11C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.596-11C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3852-11C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.442-11C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.442-11C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-43492434-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492434
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492434
    reference: chr 18
allele count: 1
allele frequency: 8.419209267865562e-6
allele num: 118776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3852-13T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.442-13T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.442-13T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.596-13T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.442-13T>G
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3817-13T>G
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

18-43492437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43492437
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 43492437
    reference: chr 18
allele count: 1
allele frequency: 8.449942540390725e-6
allele num: 118344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000467464
  ensembl transcript: ENST00000592272
  gene symbol: EPG5
  hgvsc: ENST00000592272.1:c.442-16C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000585906
  gene symbol: EPG5
  hgvsc: ENST00000585906.1:n.596-16C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466990
  ensembl transcript: ENST00000587884
  gene symbol: EPG5
  hgvsc: ENST00000587884.1:c.442-16C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl transcript: ENST00000587974
  gene symbol: EPG5
  hgvsc: ENST00000587974.1:n.3852-16C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000466403
  ensembl transcript: ENST00000590884
  gene symbol: EPG5
  hgvsc: ENST00000590884.1:c.442-16C>T
  variant of: http://identifiers.org/hgnc/29331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152223
  ensembl protein: ENSP00000282041
  ensembl transcript: ENST00000282041
  gene symbol: EPG5
  hgvsc: ENST00000282041.5:c.3817-16C>T
  variant of: http://identifiers.org/hgnc/29331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 20327
bin: 9.75e1
variant carriers: 109

GenotypeQuality
all individuals: 675
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27867
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5444
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 3.333333333333334e-3
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 29
allele frequency: 4.384638645297853e-3
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 32
allele frequency: 1.939158889831536e-3
allele num: 16502
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 6.449871002579948e-4
allele num: 66668
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

QD
type: SiteQuality
SIO_000300: 1.452e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.303902e6

VQSLOD
type: SiteQuality
SIO_000300: 5.91e0

GenotypeQuality
all individuals: 1663
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27921
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

MQRankSum
type: SiteQuality
SIO_000300: -3.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.272e0

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

DP
type: SiteQuality
SIO_000300: 2.298349e6

QD
type: SiteQuality
SIO_000300: 1.422e1

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20252
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5453
bin: 6.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.93e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e0

VQSLOD
type: SiteQuality
SIO_000300: -2.894e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

FS
type: SiteQuality
SIO_000300: 1.152e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 2.29868e6

QD
type: SiteQuality
SIO_000300: 1.557e1

MQRankSum
type: SiteQuality
SIO_000300: -1.087e0

GenotypeQuality
all individuals: 1321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1849
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 971
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.423999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 2.298655e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.207e0

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.21e-2

QD
type: SiteQuality
SIO_000300: 1.731e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

GenotypeQuality
all individuals: 1320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20254
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 686
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49829064955317e-5
allele num: 66692
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

QD
type: SiteQuality
SIO_000300: 1.353e1

FS
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

DP
type: SiteQuality
SIO_000300: 2.298826e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.82e-1

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20253
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27900
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

FS
type: SiteQuality
SIO_000300: 4.821e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 2.298568e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.624e0

QD
type: SiteQuality
SIO_000300: 1.607e1

VQSLOD
type: SiteQuality
SIO_000300: -2.064e-1

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.368e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 4.312e0

MQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

DP
type: SiteQuality
SIO_000300: 2.298535e6

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 837
bin: 8.25e1
variant carriers: 15

GenotypeQuality
all individuals: 4838
bin: 6.75e1
variant carriers: 11

GenotypeQuality
all individuals: 25919
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 24941
bin: 9.75e1
variant carriers: 22702

GenotypeQuality
all individuals: 1309
bin: 7.25e1
variant carriers: 9

European (Non-Finnish)
type: Population
allele count: 9909
allele frequency: 1.48667706895517e-1
allele num: 66652
num of homozygotes: 748

African
type: Population
allele count: 2543
allele frequency: 2.605532786885246e-1
allele num: 9760
num of homozygotes: 339

East Asian
type: Population
allele count: 2575
allele frequency: 2.994186046511628e-1
allele num: 8600
num of homozygotes: 400

European (Finnish)
type: Population
allele count: 1563
allele frequency: 2.363883847549909e-1
allele num: 6612
num of homozygotes: 195

South Asian
type: Population
allele count: 4480
allele frequency: 2.714493456131847e-1
allele num: 16504
num of homozygotes: 629

Latino
type: Population
allele count: 5087
allele frequency: 4.40356648199446e-1
allele num: 11552
num of homozygotes: 1193

Other
type: Population
allele count: 191
allele frequency: 2.126948775055679e-1
allele num: 898
num of homozygotes: 28

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 2.976436e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e0

QD
type: SiteQuality
SIO_000300: 1.707e1

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3472
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

FS
type: SiteQuality
SIO_000300: 1.171e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.427e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 1.75036e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.789e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3463
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 480
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 9.25e1
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: 16488
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: 5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

QD
type: SiteQuality
SIO_000300: 1.684e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.404e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

FS
type: SiteQuality
SIO_000300: 2.061e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 1.749239e6

GenotypeQuality
all individuals: 7947
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 6
allele frequency: 6.970260223048327e-4
allele num: 8608
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 1.764e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

DP
type: SiteQuality
SIO_000300: 1.749162e6

QD
type: SiteQuality
SIO_000300: 1.336e1

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

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.512244959283633e-5
allele num: 66558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.749162e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 1.764e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

GenotypeQuality
all individuals: 233
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2187
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variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7953
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502584445245823e-5
allele num: 66552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.028383381324558e-4
allele num: 9724
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.831e0

DP
type: SiteQuality
SIO_000300: 1.748489e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 2.228e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

GenotypeQuality
all individuals: 2188
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7948
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3429
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 1.029230135858378e-4
allele num: 9716
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 1.747283e6

QD
type: SiteQuality
SIO_000300: 1.555e1

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3427
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.060156571899464e-4
allele num: 9708
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.746783e6

FS
type: SiteQuality
SIO_000300: 3.672e0

VQSLOD
type: SiteQuality
SIO_000300: 3.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.436e1

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 480
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.759e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.746353e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.499e1

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3421
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
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: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.744693e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 5.863e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.097e0

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.69e-1

FS
type: SiteQuality
SIO_000300: 1.075e0

QD
type: SiteQuality
SIO_000300: 1.766e1

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41669
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7910
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 9.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 51
allele frequency: 7.713248638838476e-3
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.548307184145334e-3
allele num: 9688
num of homozygotes: 0

South Asian
type: Population
allele count: 36
allele frequency: 2.185261624377807e-3
allele num: 16474
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.127102479625455e-3
allele num: 11534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 427
allele frequency: 6.427625240847785e-3
allele num: 66432
num of homozygotes: 2

FS
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

DP
type: SiteQuality
SIO_000300: 1.75371e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.381e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

GenotypeQuality
all individuals: 1277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42016
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.512401693889897e-3
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.505570611261668e-4
allele num: 66420
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.469e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

DP
type: SiteQuality
SIO_000300: 1.729491e6

GenotypeQuality
all individuals: 2999
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011141222523336e-5
allele num: 66420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.469e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

DP
type: SiteQuality
SIO_000300: 1.729491e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7973
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 700
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41977
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GenotypeQuality
all individuals: 1280
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.428658166363084e-4
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.505888022166672e-4
allele num: 66406
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.60235947258848e-4
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
SIO_000300: 1.212e1

FS
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 1.728219e6

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.58e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 41980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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
all individuals: 1274
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variant carriers: 0

GenotypeQuality
all individuals: 7975
bin: 6.75e1
variant carriers: 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: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
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: 16468
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -2.364e0

QD
type: SiteQuality
SIO_000300: 5.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.74e-1

DP
type: SiteQuality
SIO_000300: 1.726847e6

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41966
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variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.069108214359611e-4
allele num: 9666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

FS
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.18e-1

DP
type: SiteQuality
SIO_000300: 1.72552e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.346e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 7935
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 694
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508841813024323e-5
allele num: 66276
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: 5.151e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.803e-1

DP
type: SiteQuality
SIO_000300: 1.723471e6

QD
type: SiteQuality
SIO_000300: 7.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.269e0

GenotypeQuality
all individuals: 41875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 7921
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variant carriers: 0

GenotypeQuality
all individuals: 692
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 2957
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
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: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 2.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.445e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

DP
type: SiteQuality
SIO_000300: 1.722669e6

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 2957
bin: 9.75e1
variant carriers: 1

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: 1
allele frequency: 1.509433962264151e-5
allele num: 66250
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: 11504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.722669e6

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 2.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-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
all individuals: 1229
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2095
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variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66000
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.336448598130841e-4
allele num: 8560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.708836e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: -7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 1.724e1

VQSLOD
type: SiteQuality
SIO_000300: -1.69e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.044713748432929e-4
allele num: 9572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16122
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.879e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.073e0

QD
type: SiteQuality
SIO_000300: 1.37e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63542
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.295504599041327e-4
allele num: 15438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

Other
type: Population
allele count: 0
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East Asian
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allele count: 95
allele frequency: 1.158819224201025e-2
allele num: 8198
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

BaseQRankSum
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SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.485373e6

QD
type: SiteQuality
SIO_000300: 1.549e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1521
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GenotypeQuality
all individuals: 2882
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GenotypeQuality
all individuals: 559
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variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.509569066527795e-5
allele num: 15362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -5.247000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.091e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e0

QD
type: SiteQuality
SIO_000300: 1.126e1

DP
type: SiteQuality
SIO_000300: 1.448327e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1086
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593270027404244e-5
allele num: 62764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.479e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

FS
type: SiteQuality
SIO_000300: 6.953e0

VQSLOD
type: SiteQuality
SIO_000300: 2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.594e0

DP
type: SiteQuality
SIO_000300: 1.359263e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.59382869529183e-5
allele num: 62742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.599e1

DP
type: SiteQuality
SIO_000300: 1.338438e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 474
bin: 7.5e0
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
all individuals: 273
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GenotypeQuality
all individuals: 1567
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.322751322751323e-4
allele num: 15120
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.328591e6

QD
type: SiteQuality
SIO_000300: 2.96e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 387
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14874
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.149130832570906e-5
allele num: 10930
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62040
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

QD
type: SiteQuality
SIO_000300: 9.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.225e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.276486e6

FS
type: SiteQuality
SIO_000300: 3.332e0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-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: 2874
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variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61754
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.264862130027827e-4
allele num: 7906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14846
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.67e0

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

QD
type: SiteQuality
SIO_000300: 2.015e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
SIO_000300: 1.257661e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.296e0

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
all individuals: 2892
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GenotypeQuality
all individuals: 405
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
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: 9638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.018952516812716e-4
allele num: 9814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.383e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.28e-1

DP
type: SiteQuality
SIO_000300: 1.782449e6

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

MQ
type: SiteQuality
SIO_000300: 5.739e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.77e-1

QD
type: SiteQuality
SIO_000300: 1.547e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.883e0

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
all individuals: 1926
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GenotypeQuality
all individuals: 165
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
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: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.010713563776026e-4
allele num: 9894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.398e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.596e1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.78663e6

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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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 18
allele frequency: 1.867219917012448e-3
allele num: 9640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
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: 8534
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

DP
type: SiteQuality
SIO_000300: 1.793334e6

FS
type: SiteQuality
SIO_000300: 1.358e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 33

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8205
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GenotypeQuality
all individuals: 1915
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

African
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allele count: 32
allele frequency: 3.318813524165111e-3
allele num: 9642
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553180914512922e-5
allele num: 64384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 1.79399e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

QD
type: SiteQuality
SIO_000300: 1.77e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 178
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GenotypeQuality
all individuals: 1249
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64522
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.51123595505618e-4
allele num: 8544
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: 10416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
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MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.802121e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.914e0

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

FS
type: SiteQuality
SIO_000300: 7.983e0

QD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

GenotypeQuality
all individuals: 30171
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1937
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.035840066293764e-4
allele num: 9654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549186676994578e-5
allele num: 64550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.107e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 3.325e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.804832e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.377e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.46073793755913e-5
allele num: 10570
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 3.325e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.377e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 1.804832e6

QD
type: SiteQuality
SIO_000300: 1.107e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548275221403357e-5
allele num: 64588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

FS
type: SiteQuality
SIO_000300: 1.958e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.065e1

DP
type: SiteQuality
SIO_000300: 1.805397e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1247
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GenotypeQuality
all individuals: 2912
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.069744597249509e-5
allele num: 65152
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: 9708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12330
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.891e1

DP
type: SiteQuality
SIO_000300: 1.827723e6

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.8e-3

FS
type: SiteQuality
SIO_000300: 3.839e0

QD
type: SiteQuality
SIO_000300: 1.229e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
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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
all individuals: 2958
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13998
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1

DP
type: SiteQuality
SIO_000300: 1.849885e6

GenotypeQuality
all individuals: 1789
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2958
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1982
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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: 2566
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.024590163934426e-4
allele num: 9760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65678
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.143877696813831e-5
allele num: 13998
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.046e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 9.27e-1

DP
type: SiteQuality
SIO_000300: 1.849885e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-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
all individuals: 95
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.216212107391529e-4
allele num: 65778
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.853715e6

MQ
type: SiteQuality
SIO_000300: 5.869e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.147e0

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 81

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 32785
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GenotypeQuality
all individuals: 14
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.581271227559437e-5
allele num: 65952
num of homozygotes: 0

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

African
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allele count: 70
allele frequency: 7.164790174002047e-3
allele num: 9770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14764
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.198405822214521e-4
allele num: 11542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.207e0

QD
type: SiteQuality
SIO_000300: 1.23e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

FS
type: SiteQuality
SIO_000300: 1.838e0

DP
type: SiteQuality
SIO_000300: 1.863217e6

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: 33020
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-5
allele num: 66060
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

South Asian
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allele count: 8
allele frequency: 5.319856363878176e-4
allele num: 15038
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.320724065908564e-4
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02291325695581e-4
allele num: 9776
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.203e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.864174e6

FS
type: SiteQuality
SIO_000300: 4.456e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 3078
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

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

African
type: Population
allele count: 0
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allele num: 9796
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South Asian
type: Population
allele count: 1
allele frequency: 6.363752068219422e-5
allele num: 15714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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VQSLOD
type: SiteQuality
SIO_000300: -1.488e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.699e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.39e-1

DP
type: SiteQuality
SIO_000300: 1.874984e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

GenotypeQuality
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GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 1274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6950
bin: 9.75e1
variant carriers: 6

South Asian
type: Population
allele count: 6
allele frequency: 3.689583077112286e-4
allele num: 16262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.458e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.1e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.885979e6

QD
type: SiteQuality
SIO_000300: 1.222e1

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33863
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8963
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
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: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

DP
type: SiteQuality
SIO_000300: 1.889603e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.913e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

QD
type: SiteQuality
SIO_000300: 1.695e1

MQ
type: SiteQuality
SIO_000300: 5.801e1

GenotypeQuality
all individuals: 98
bin: 2.75e1
variant carriers: 27

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 20

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 30

GenotypeQuality
all individuals: 7011
bin: 9.75e1
variant carriers: 3576

GenotypeQuality
all individuals: 33436
bin: 6.25e1
variant carriers: 33

GenotypeQuality
all individuals: 1002
bin: 9.25e1
variant carriers: 43

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 33

GenotypeQuality
all individuals: 839
bin: 8.75e1
variant carriers: 43

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 33

African
type: Population
allele count: 627
allele frequency: 6.616715913887716e-2
allele num: 9476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2614
allele frequency: 3.980629834927209e-2
allele num: 65668
num of homozygotes: 0

East Asian
type: Population
allele count: 110
allele frequency: 1.28085700978109e-2
allele num: 8588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 649
allele frequency: 1.0e-1
allele num: 6490
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.927796072691791e-4
allele num: 16398
num of homozygotes: 0

Other
type: Population
allele count: 48
allele frequency: 5.442176870748299e-2
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 107
allele frequency: 9.256055363321799e-3
allele num: 11560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

MQ
type: SiteQuality
SIO_000300: 5.801e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.824e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e0

DP
type: SiteQuality
SIO_000300: 2.044306e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.548e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.59e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.397e2

FS
type: SiteQuality
SIO_000300: 3.07221e2

QD
type: SiteQuality
SIO_000300: 2.95e0

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

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2867
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9394
bin: 6.75e1
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: 16426
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-2

QD
type: SiteQuality
SIO_000300: 1.012e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

DP
type: SiteQuality
SIO_000300: 1.863079e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2

FS
type: SiteQuality
SIO_000300: 3.287e0

GenotypeQuality
all individuals: 479
bin: 2.25e1
variant carriers: 17

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 9

GenotypeQuality
all individuals: 624
bin: 3.75e1
variant carriers: 18

GenotypeQuality
all individuals: 384
bin: 1.75e1
variant carriers: 16

GenotypeQuality
all individuals: 8687
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2472
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 1389
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 984
bin: 5.75e1
variant carriers: 16

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 6

Other
type: Population
allele count: 10
allele frequency: 1.15473441108545e-2
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 43
allele frequency: 4.520605550883095e-3
allele num: 9512
num of homozygotes: 0

Latino
type: Population
allele count: 22
allele frequency: 1.986635362109445e-3
allele num: 11074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 309
allele frequency: 4.749900083007963e-3
allele num: 65054
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.864125617323034e-4
allele num: 15794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 257
allele frequency: 4.379686434901159e-2
allele num: 5868
num of homozygotes: 0

East Asian
type: Population
allele count: 42
allele frequency: 5.035971223021582e-3
allele num: 8340
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.742e0

VQSLOD
type: SiteQuality
SIO_000300: -1.508e2

FS
type: SiteQuality
SIO_000300: 1.81472e2

DP
type: SiteQuality
SIO_000300: 1.943751e6

MQ
type: SiteQuality
SIO_000300: 5.893e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

QD
type: SiteQuality
SIO_000300: 4.32e0

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

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 824
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.74e1

DP
type: SiteQuality
SIO_000300: 1.81014e6

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 5.9378e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.88e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3228
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38132
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2945
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

African
type: Population
allele count: 16
allele frequency: 1.63265306122449e-3
allele num: 9800
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: 16478
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.188e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 1.102e0

DP
type: SiteQuality
SIO_000300: 1.810265e6

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38132
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3214
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

DP
type: SiteQuality
SIO_000300: 1.809866e6

QD
type: SiteQuality
SIO_000300: 9.77e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.062e0

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

FS
type: SiteQuality
SIO_000300: 3.629e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 817
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
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: 11574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.115e0

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

FS
type: SiteQuality
SIO_000300: 1.0365e1

VQSLOD
type: SiteQuality
SIO_000300: -1.301e0

DP
type: SiteQuality
SIO_000300: 1.809978e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.26e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3198
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.068e1

DP
type: SiteQuality
SIO_000300: 1.810292e6

FS
type: SiteQuality
SIO_000300: 1.851e0

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9865
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2936
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38243
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

FS
type: SiteQuality
SIO_000300: 9.46e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 9.23e0

DP
type: SiteQuality
SIO_000300: 1.810315e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2941
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2820
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.31e-1

DP
type: SiteQuality
SIO_000300: 1.810288e6

VQSLOD
type: SiteQuality
SIO_000300: -3.964e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.138e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.292e0

FS
type: SiteQuality
SIO_000300: 1.378e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

QD
type: SiteQuality
SIO_000300: 8.01e0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9846
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2936
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e0

VQSLOD
type: SiteQuality
SIO_000300: -2.362e0

QD
type: SiteQuality
SIO_000300: 9.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 2.413e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

DP
type: SiteQuality
SIO_000300: 1.809885e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.546e0

GenotypeQuality
all individuals: 38248
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49748141041017e-5
allele num: 66704
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.042e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.76e-1

FS
type: SiteQuality
SIO_000300: 3.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.066e1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.810151e6

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

GenotypeQuality
all individuals: 731
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9831
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38252
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3203
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2932
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.63821892393321e-4
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.021659174499387e-4
allele num: 9788
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

DP
type: SiteQuality
SIO_000300: 1.809563e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.844e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 6.43e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

GenotypeQuality
all individuals: 309
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

DP
type: SiteQuality
SIO_000300: 1.80392e6

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.814e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
type: SiteQuality
SIO_000300: 1.298e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: -6.424e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.786e0

FS
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 37854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3194
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.801871e6

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

FS
type: SiteQuality
SIO_000300: 1.4713e1

VQSLOD
type: SiteQuality
SIO_000300: -2.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.057e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
all individuals: 37433
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.941000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e0

QD
type: SiteQuality
SIO_000300: 1.024e1

MQRankSum
type: SiteQuality
SIO_000300: -9.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.535e0

DP
type: SiteQuality
SIO_000300: 1.793987e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.349e0

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1606
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variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
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variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

DP
type: SiteQuality
SIO_000300: 1.792292e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 7.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.703e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

GenotypeQuality
all individuals: 373
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3116
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
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variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65804
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.05241001894338e-4
allele num: 9502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.788e0

QD
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.434e1

MQ
type: SiteQuality
SIO_000300: 5.811e1

FS
type: SiteQuality
SIO_000300: 7.0729e1

DP
type: SiteQuality
SIO_000300: 1.767369e6

GenotypeQuality
all individuals: 3093
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33681
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.637318995539806e-5
allele num: 65468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.18427285646613e-4
allele num: 8444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 4.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

DP
type: SiteQuality
SIO_000300: 1.727194e6

VQSLOD
type: SiteQuality
SIO_000300: -1.99e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

MQ
type: SiteQuality
SIO_000300: 5.78e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.173e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.472e0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2747
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8852
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52452968259292e-5
allele num: 65594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

FS
type: SiteQuality
SIO_000300: 2.747e0

MQ
type: SiteQuality
SIO_000300: 5.831e1

VQSLOD
type: SiteQuality
SIO_000300: -1.905e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.102e1

DP
type: SiteQuality
SIO_000300: 1.70057e6