11-46563565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563565
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563565
    reference: chr 11
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.2002G>A
  hgvsp: ENSP00000431926.1:p.Gly668Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.2002G>A
  hgvsp: ENSP00000298834.3:p.Gly668Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1732G>A
  hgvsp: ENSP00000318313.3:p.Gly578Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1732G>A
  hgvsp: ENSP00000433372.1:p.Gly578Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.2002G>A
  hgvsp: ENSP00000433945.1:p.Gly668Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.2002G>A
  hgvsp: ENSP00000415327.2:p.Gly668Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.2002G>A
  hgvsp: ENSP00000410899.1:p.Gly668Arg
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly578Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

11-46563567-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563567
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563567
    reference: chr 11
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.2000C>G
  hgvsp: ENSP00000415327.2:p.Ser667Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.2000C>G
  hgvsp: ENSP00000410899.1:p.Ser667Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.2000C>G
  hgvsp: ENSP00000433945.1:p.Ser667Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.2000C>G
  hgvsp: ENSP00000298834.3:p.Ser667Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1730C>G
  hgvsp: ENSP00000433372.1:p.Ser577Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.2000C>G
  hgvsp: ENSP00000431926.1:p.Ser667Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1730C>G
  hgvsp: ENSP00000318313.3:p.Ser577Cys
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser577Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/11-46563570-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563570
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563570
    reference: chr 11
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1997G>T
  hgvsp: ENSP00000433945.1:p.Arg666Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1997G>T
  hgvsp: ENSP00000431926.1:p.Arg666Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1727G>T
  hgvsp: ENSP00000433372.1:p.Arg576Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1997G>T
  hgvsp: ENSP00000410899.1:p.Arg666Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1997G>T
  hgvsp: ENSP00000298834.3:p.Arg666Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1727G>T
  hgvsp: ENSP00000318313.3:p.Arg576Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1997G>T
  hgvsp: ENSP00000415327.2:p.Arg666Ile
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9682
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg576Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

11-46563579-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563579
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563579
    reference: chr 11
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1988A>C
  hgvsp: ENSP00000298834.3:p.Gln663Pro
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1988A>C
  hgvsp: ENSP00000410899.1:p.Gln663Pro
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1988A>C
  hgvsp: ENSP00000431926.1:p.Gln663Pro
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1988A>C
  hgvsp: ENSP00000433945.1:p.Gln663Pro
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1718A>C
  hgvsp: ENSP00000318313.3:p.Gln573Pro
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1718A>C
  hgvsp: ENSP00000433372.1:p.Gln573Pro
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1988A>C
  hgvsp: ENSP00000415327.2:p.Gln663Pro
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln573Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

11-46563580-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563580
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563580
    reference: chr 11
allele count: 9
allele frequency: 7.414974953862378e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1987C>G
  hgvsp: ENSP00000415327.2:p.Gln663Glu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1717C>G
  hgvsp: ENSP00000433372.1:p.Gln573Glu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1717C>G
  hgvsp: ENSP00000318313.3:p.Gln573Glu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1987C>G
  hgvsp: ENSP00000431926.1:p.Gln663Glu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1987C>G
  hgvsp: ENSP00000298834.3:p.Gln663Glu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1987C>G
  hgvsp: ENSP00000433945.1:p.Gln663Glu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1987C>G
  hgvsp: ENSP00000410899.1:p.Gln663Glu
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42115
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln573Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-46563603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563603
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563603
    reference: chr 11
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1964G>A
  hgvsp: ENSP00000410899.1:p.Gly655Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1964G>A
  hgvsp: ENSP00000431926.1:p.Gly655Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1694G>A
  hgvsp: ENSP00000433372.1:p.Gly565Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1964G>A
  hgvsp: ENSP00000298834.3:p.Gly655Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1964G>A
  hgvsp: ENSP00000415327.2:p.Gly655Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1964G>A
  hgvsp: ENSP00000433945.1:p.Gly655Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1694G>A
  hgvsp: ENSP00000318313.3:p.Gly565Asp
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly565Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

11-46563625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563625
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563625
    reference: chr 11
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1672G>A
  hgvsp: ENSP00000318313.3:p.Val558Met
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1942G>A
  hgvsp: ENSP00000433945.1:p.Val648Met
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1942G>A
  hgvsp: ENSP00000415327.2:p.Val648Met
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1672G>A
  hgvsp: ENSP00000433372.1:p.Val558Met
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1942G>A
  hgvsp: ENSP00000410899.1:p.Val648Met
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1942G>A
  hgvsp: ENSP00000431926.1:p.Val648Met
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1942G>A
  hgvsp: ENSP00000298834.3:p.Val648Met
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val558Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

11-46563629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563629
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563629
    reference: chr 11
allele count: 3
allele frequency: 2.474022761009401e-5
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1938G>A
  hgvsp: ENST00000458649.2:c.1938G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1938G>A
  hgvsp: ENST00000528950.1:c.1938G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1938G>A
  hgvsp: ENST00000426438.1:c.1938G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1668G>A
  hgvsp: ENST00000314845.3:c.1668G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1938G>A
  hgvsp: ENST00000534300.1:c.1938G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1938G>A
  hgvsp: ENST00000298834.3:c.1938G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1668G>A
  hgvsp: ENST00000533727.1:c.1668G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31822
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val556Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-46563641-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563641
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563641
    reference: chr 11
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1926G>C
  hgvsp: ENSP00000410899.1:p.Glu642Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1926G>C
  hgvsp: ENSP00000415327.2:p.Glu642Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1656G>C
  hgvsp: ENSP00000318313.3:p.Glu552Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1926G>C
  hgvsp: ENSP00000298834.3:p.Glu642Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1656G>C
  hgvsp: ENSP00000433372.1:p.Glu552Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1926G>C
  hgvsp: ENSP00000431926.1:p.Glu642Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1926G>C
  hgvsp: ENSP00000433945.1:p.Glu642Asp
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu552Asp
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

11-46563647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563647
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563647
    reference: chr 11
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1920G>A
  hgvsp: ENST00000298834.3:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1920G>A
  hgvsp: ENST00000528950.1:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1920G>A
  hgvsp: ENST00000534300.1:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1650G>A
  hgvsp: ENST00000533727.1:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1920G>A
  hgvsp: ENST00000426438.1:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1920G>A
  hgvsp: ENST00000458649.2:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1650G>A
  hgvsp: ENST00000314845.3:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41816
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro550Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

11-46563648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563648
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563648
    reference: chr 11
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1919C>T
  hgvsp: ENSP00000431926.1:p.Pro640Leu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1919C>T
  hgvsp: ENSP00000410899.1:p.Pro640Leu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1919C>T
  hgvsp: ENSP00000298834.3:p.Pro640Leu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1919C>T
  hgvsp: ENSP00000415327.2:p.Pro640Leu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1649C>T
  hgvsp: ENSP00000318313.3:p.Pro550Leu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1919C>T
  hgvsp: ENSP00000433945.1:p.Pro640Leu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1649C>T
  hgvsp: ENSP00000433372.1:p.Pro550Leu
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro550Leu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

11-46563652-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563652
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563652
    reference: chr 11
allele count: 4
allele frequency: 3.30376463980706e-5
allele num: 121074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1915A>C
  hgvsp: ENSP00000415327.2:p.Ser639Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1645A>C
  hgvsp: ENSP00000433372.1:p.Ser549Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1645A>C
  hgvsp: ENSP00000318313.3:p.Ser549Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1915A>C
  hgvsp: ENSP00000298834.3:p.Ser639Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1915A>C
  hgvsp: ENSP00000431926.1:p.Ser639Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1915A>C
  hgvsp: ENSP00000410899.1:p.Ser639Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1915A>C
  hgvsp: ENSP00000433945.1:p.Ser639Arg
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41882
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser549Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-46563660-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563660
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563660
    reference: chr 11
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1907G>C
  hgvsp: ENSP00000298834.3:p.Ser636Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1907G>C
  hgvsp: ENSP00000410899.1:p.Ser636Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1637G>C
  hgvsp: ENSP00000433372.1:p.Ser546Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1907G>C
  hgvsp: ENSP00000431926.1:p.Ser636Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1907G>C
  hgvsp: ENSP00000415327.2:p.Ser636Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1637G>C
  hgvsp: ENSP00000318313.3:p.Ser546Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1907G>C
  hgvsp: ENSP00000433945.1:p.Ser636Thr
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13053
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser546Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-46563665-CAACTCCAGCCTGCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563665
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563651
    reference: chr 11
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsp: ENSP00000298834.3:p.Ser630GlufsTer5
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsp: ENSP00000410899.1:p.Ser630GlufsTer5
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsp: ENSP00000433945.1:p.Ser630GlufsTer5
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsp: ENSP00000431926.1:p.Ser630GlufsTer5
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsp: ENSP00000415327.2:p.Ser630GlufsTer5
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsp: ENSP00000318313.3:p.Ser540GlufsTer5
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsp: ENSP00000433372.1:p.Ser540GlufsTer5
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser540GlufsTer5
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: CAACTCCAGCCTGCT
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

11-46563668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563668
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563668
    reference: chr 11
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1899G>A
  hgvsp: ENST00000426438.1:c.1899G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1899G>A
  hgvsp: ENST00000528950.1:c.1899G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1629G>A
  hgvsp: ENST00000314845.3:c.1629G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1899G>A
  hgvsp: ENST00000458649.2:c.1899G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1899G>A
  hgvsp: ENST00000534300.1:c.1899G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1899G>A
  hgvsp: ENST00000298834.3:c.1899G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1629G>A
  hgvsp: ENST00000533727.1:c.1629G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu543Glu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-46563674-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563674
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563674
    reference: chr 11
allele count: 1
allele frequency: 8.301924386072691e-6
allele num: 120454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1893G>T
  hgvsp: ENSP00000410899.1:p.Arg631Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1893G>T
  hgvsp: ENSP00000415327.2:p.Arg631Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1623G>T
  hgvsp: ENSP00000433372.1:p.Arg541Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1893G>T
  hgvsp: ENSP00000433945.1:p.Arg631Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1623G>T
  hgvsp: ENSP00000318313.3:p.Arg541Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1893G>T
  hgvsp: ENSP00000431926.1:p.Arg631Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1893G>T
  hgvsp: ENSP00000298834.3:p.Arg631Ser
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30258
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg541Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-46563677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563677
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563677
    reference: chr 11
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1890C>T
  hgvsp: ENST00000426438.1:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1890C>T
  hgvsp: ENST00000298834.3:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1890C>T
  hgvsp: ENST00000528950.1:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1620C>T
  hgvsp: ENST00000533727.1:c.1620C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1890C>T
  hgvsp: ENST00000534300.1:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1620C>T
  hgvsp: ENST00000314845.3:c.1620C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1890C>T
  hgvsp: ENST00000458649.2:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser540Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

11-46563689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563689
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563689
    reference: chr 11
allele count: 1
allele frequency: 8.369181326682624e-6
allele num: 119486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1878G>A
  hgvsp: ENST00000528950.1:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1878G>A
  hgvsp: ENST00000534300.1:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1878G>A
  hgvsp: ENST00000458649.2:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1878G>A
  hgvsp: ENST00000298834.3:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1608G>A
  hgvsp: ENST00000533727.1:c.1608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1608G>A
  hgvsp: ENST00000314845.3:c.1608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1878G>A
  hgvsp: ENST00000426438.1:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11916
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35442
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr536Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

11-46563690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563690
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563690
    reference: chr 11
allele count: 4
allele frequency: 3.350532734704818e-5
allele num: 119384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1877C>T
  hgvsp: ENSP00000415327.2:p.Thr626Met
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1607C>T
  hgvsp: ENSP00000318313.3:p.Thr536Met
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1877C>T
  hgvsp: ENSP00000410899.1:p.Thr626Met
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1877C>T
  hgvsp: ENSP00000431926.1:p.Thr626Met
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1607C>T
  hgvsp: ENSP00000433372.1:p.Thr536Met
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1877C>T
  hgvsp: ENSP00000298834.3:p.Thr626Met
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1877C>T
  hgvsp: ENSP00000433945.1:p.Thr626Met
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11977
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr536Met
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

11-46563692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563692
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563692
    reference: chr 11
allele count: 1
allele frequency: 8.378998877214151e-6
allele num: 119346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1605A>G
  hgvsp: ENST00000533727.1:c.1605A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1605A>G
  hgvsp: ENST00000314845.3:c.1605A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1875A>G
  hgvsp: ENST00000458649.2:c.1875A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1875A>G
  hgvsp: ENST00000534300.1:c.1875A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1875A>G
  hgvsp: ENST00000426438.1:c.1875A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1875A>G
  hgvsp: ENST00000298834.3:c.1875A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1875A>G
  hgvsp: ENST00000528950.1:c.1875A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25843
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34740
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln535Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/11-46563696-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563696
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563696
    reference: chr 11
allele count: 1
allele frequency: 8.409014463504877e-6
allele num: 118920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1871G>T
  hgvsp: ENSP00000410899.1:p.Gly624Val
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1871G>T
  hgvsp: ENSP00000415327.2:p.Gly624Val
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1871G>T
  hgvsp: ENSP00000298834.3:p.Gly624Val
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1871G>T
  hgvsp: ENSP00000431926.1:p.Gly624Val
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1601G>T
  hgvsp: ENSP00000318313.3:p.Gly534Val
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1601G>T
  hgvsp: ENSP00000433372.1:p.Gly534Val
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1871G>T
  hgvsp: ENSP00000433945.1:p.Gly624Val
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly534Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-46563697-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563697
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563697
    reference: chr 11
allele count: 1
allele frequency: 8.411985396793351e-6
allele num: 118878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1870G>T
  hgvsp: ENSP00000298834.3:p.Gly624Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1600G>T
  hgvsp: ENSP00000318313.3:p.Gly534Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1600G>T
  hgvsp: ENSP00000433372.1:p.Gly534Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1870G>T
  hgvsp: ENSP00000410899.1:p.Gly624Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1870G>T
  hgvsp: ENSP00000431926.1:p.Gly624Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1870G>T
  hgvsp: ENSP00000433945.1:p.Gly624Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1870G>T
  hgvsp: ENSP00000415327.2:p.Gly624Cys
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly534Cys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

11-46563698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563698
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563698
    reference: chr 11
allele count: 9
allele frequency: 7.589684775092341e-5
allele num: 118582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1869G>A
  hgvsp: ENST00000298834.3:c.1869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1869G>A
  hgvsp: ENST00000534300.1:c.1869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1869G>A
  hgvsp: ENST00000528950.1:c.1869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1599G>A
  hgvsp: ENST00000533727.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1869G>A
  hgvsp: ENST00000458649.2:c.1869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1599G>A
  hgvsp: ENST00000314845.3:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1869G>A
  hgvsp: ENST00000426438.1:c.1869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22217
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu533Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

11-46563706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563706
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563706
    reference: chr 11
allele count: 1
allele frequency: 8.476731372382808e-6
allele num: 117970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1861C>T
  hgvsp: ENSP00000410899.1:p.Arg621Trp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1861C>T
  hgvsp: ENSP00000298834.3:p.Arg621Trp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1591C>T
  hgvsp: ENSP00000433372.1:p.Arg531Trp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1591C>T
  hgvsp: ENSP00000318313.3:p.Arg531Trp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1861C>T
  hgvsp: ENSP00000433945.1:p.Arg621Trp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1861C>T
  hgvsp: ENSP00000415327.2:p.Arg621Trp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1861C>T
  hgvsp: ENSP00000431926.1:p.Arg621Trp
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg531Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

11-46563709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563709
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563709
    reference: chr 11
allele count: 1
allele frequency: 8.495599279573181e-6
allele num: 117708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1858G>A
  hgvsp: ENSP00000433945.1:p.Glu620Lys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1858G>A
  hgvsp: ENSP00000415327.2:p.Glu620Lys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1858G>A
  hgvsp: ENSP00000298834.3:p.Glu620Lys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1588G>A
  hgvsp: ENSP00000318313.3:p.Glu530Lys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1858G>A
  hgvsp: ENSP00000431926.1:p.Glu620Lys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1858G>A
  hgvsp: ENSP00000410899.1:p.Glu620Lys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1588G>A
  hgvsp: ENSP00000433372.1:p.Glu530Lys
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28070
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu530Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

11-46563710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563710
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563710
    reference: chr 11
allele count: 2
allele frequency: 1.697648756472286e-5
allele num: 117810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1857C>T
  hgvsp: ENST00000528950.1:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1857C>T
  hgvsp: ENST00000458649.2:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1587C>T
  hgvsp: ENST00000314845.3:c.1587C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1857C>T
  hgvsp: ENST00000298834.3:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1857C>T
  hgvsp: ENST00000426438.1:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1857C>T
  hgvsp: ENST00000534300.1:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1587C>T
  hgvsp: ENST00000533727.1:c.1587C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15377
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu529Leu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

11-46563723-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563723
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563723
    reference: chr 11
allele count: 1
allele frequency: 8.512811781731506e-6
allele num: 117470
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1574A>C
  hgvsp: ENSP00000318313.3:p.Gln525Pro
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1844A>C
  hgvsp: ENSP00000415327.2:p.Gln615Pro
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1844A>C
  hgvsp: ENSP00000298834.3:p.Gln615Pro
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1844A>C
  hgvsp: ENSP00000433945.1:p.Gln615Pro
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1844A>C
  hgvsp: ENSP00000410899.1:p.Gln615Pro
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1574A>C
  hgvsp: ENSP00000433372.1:p.Gln525Pro
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1844A>C
  hgvsp: ENSP00000431926.1:p.Gln615Pro
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln525Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

11-46563728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563728
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563728
    reference: chr 11
allele count: 3
allele frequency: 2.555279206841334e-5
allele num: 117404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1839C>T
  hgvsp: ENST00000298834.3:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1569C>T
  hgvsp: ENST00000314845.3:c.1569C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1569C>T
  hgvsp: ENST00000533727.1:c.1569C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1839C>T
  hgvsp: ENST00000528950.1:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1839C>T
  hgvsp: ENST00000426438.1:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1839C>T
  hgvsp: ENST00000534300.1:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1839C>T
  hgvsp: ENST00000458649.2:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17724
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly523Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/11-46563729-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563729
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563729
    reference: chr 11
allele count: 2
allele frequency: 1.703722633955192e-5
allele num: 117390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1838G>T
  hgvsp: ENSP00000298834.3:p.Gly613Val
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1838G>T
  hgvsp: ENSP00000410899.1:p.Gly613Val
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1568G>T
  hgvsp: ENSP00000433372.1:p.Gly523Val
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1568G>T
  hgvsp: ENSP00000318313.3:p.Gly523Val
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1838G>T
  hgvsp: ENSP00000415327.2:p.Gly613Val
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1838G>T
  hgvsp: ENSP00000433945.1:p.Gly613Val
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1838G>T
  hgvsp: ENSP00000431926.1:p.Gly613Val
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4187
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly523Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

11-46563729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563729
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563729
    reference: chr 11
allele count: 1
allele frequency: 8.518613169775961e-6
allele num: 117390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1838G>A
  hgvsp: ENSP00000298834.3:p.Gly613Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1838G>A
  hgvsp: ENSP00000431926.1:p.Gly613Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1838G>A
  hgvsp: ENSP00000410899.1:p.Gly613Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1568G>A
  hgvsp: ENSP00000433372.1:p.Gly523Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1568G>A
  hgvsp: ENSP00000318313.3:p.Gly523Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1838G>A
  hgvsp: ENSP00000433945.1:p.Gly613Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1838G>A
  hgvsp: ENSP00000415327.2:p.Gly613Asp
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly523Asp
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

11-46563737-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563737
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563737
    reference: chr 11
allele count: 9
allele frequency: 7.658792293552999e-5
allele num: 117512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1830A>G
  hgvsp: ENST00000426438.1:c.1830A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1830A>G
  hgvsp: ENST00000534300.1:c.1830A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1830A>G
  hgvsp: ENST00000298834.3:c.1830A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1560A>G
  hgvsp: ENST00000314845.3:c.1560A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1830A>G
  hgvsp: ENST00000528950.1:c.1830A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1560A>G
  hgvsp: ENST00000533727.1:c.1560A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1830A>G
  hgvsp: ENST00000458649.2:c.1830A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19541
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18707
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro520Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/11-46563744-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563744
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563744
    reference: chr 11
allele count: 1
allele frequency: 8.510058889607517e-6
allele num: 117508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1823G>T
  hgvsp: ENSP00000410899.1:p.Ser608Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1553G>T
  hgvsp: ENSP00000433372.1:p.Ser518Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1823G>T
  hgvsp: ENSP00000433945.1:p.Ser608Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1823G>T
  hgvsp: ENSP00000298834.3:p.Ser608Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1823G>T
  hgvsp: ENSP00000431926.1:p.Ser608Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1823G>T
  hgvsp: ENSP00000415327.2:p.Ser608Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1553G>T
  hgvsp: ENSP00000318313.3:p.Ser518Ile
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19145
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser518Ile
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

11-46563753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563753
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563753
    reference: chr 11
allele count: 1
allele frequency: 8.486370888353305e-6
allele num: 117836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1814C>T
  hgvsp: ENSP00000431926.1:p.Ser605Phe
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1544C>T
  hgvsp: ENSP00000433372.1:p.Ser515Phe
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1814C>T
  hgvsp: ENSP00000410899.1:p.Ser605Phe
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1544C>T
  hgvsp: ENSP00000318313.3:p.Ser515Phe
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1814C>T
  hgvsp: ENSP00000298834.3:p.Ser605Phe
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1814C>T
  hgvsp: ENSP00000433945.1:p.Ser605Phe
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1814C>T
  hgvsp: ENSP00000415327.2:p.Ser605Phe
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser515Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-46563753-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563753
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563753
    reference: chr 11
allele count: 1
allele frequency: 8.486370888353305e-6
allele num: 117836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1814C>A
  hgvsp: ENSP00000410899.1:p.Ser605Tyr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1814C>A
  hgvsp: ENSP00000298834.3:p.Ser605Tyr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1544C>A
  hgvsp: ENSP00000433372.1:p.Ser515Tyr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1814C>A
  hgvsp: ENSP00000431926.1:p.Ser605Tyr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1814C>A
  hgvsp: ENSP00000415327.2:p.Ser605Tyr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1544C>A
  hgvsp: ENSP00000318313.3:p.Ser515Tyr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1814C>A
  hgvsp: ENSP00000433945.1:p.Ser605Tyr
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser515Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

11-46563754-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563754
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563754
    reference: chr 11
allele count: 1
allele frequency: 8.477737461426295e-6
allele num: 117956
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1543T>A
  hgvsp: ENSP00000318313.3:p.Ser515Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1813T>A
  hgvsp: ENSP00000410899.1:p.Ser605Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1813T>A
  hgvsp: ENSP00000298834.3:p.Ser605Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1813T>A
  hgvsp: ENSP00000431926.1:p.Ser605Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1543T>A
  hgvsp: ENSP00000433372.1:p.Ser515Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1813T>A
  hgvsp: ENSP00000433945.1:p.Ser605Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1813T>A
  hgvsp: ENSP00000415327.2:p.Ser605Thr
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser515Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-46563778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563778
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563778
    reference: chr 11
allele count: 1
allele frequency: 8.317806760713336e-6
allele num: 120224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1789A>G
  hgvsp: ENSP00000410899.1:p.Ser597Gly
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1519A>G
  hgvsp: ENSP00000433372.1:p.Ser507Gly
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1789A>G
  hgvsp: ENSP00000298834.3:p.Ser597Gly
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1789A>G
  hgvsp: ENSP00000431926.1:p.Ser597Gly
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1519A>G
  hgvsp: ENSP00000318313.3:p.Ser507Gly
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1789A>G
  hgvsp: ENSP00000415327.2:p.Ser597Gly
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1789A>G
  hgvsp: ENSP00000433945.1:p.Ser597Gly
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser507Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

11-46563785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563785
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563785
    reference: chr 11
allele count: 7
allele frequency: 5.793455051065168e-5
allele num: 120826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1782C>T
  hgvsp: ENST00000426438.1:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1512C>T
  hgvsp: ENST00000533727.1:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1782C>T
  hgvsp: ENST00000458649.2:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1782C>T
  hgvsp: ENST00000528950.1:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1782C>T
  hgvsp: ENST00000298834.3:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1782C>T
  hgvsp: ENST00000534300.1:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1512C>T
  hgvsp: ENST00000314845.3:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly504Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

11-46563792-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563792
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563792
    reference: chr 11
allele count: 6
allele frequency: 4.951230380749617e-5
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1505C>A
  hgvsp: ENSP00000318313.3:p.Ser502Tyr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1775C>A
  hgvsp: ENSP00000410899.1:p.Ser592Tyr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1775C>A
  hgvsp: ENSP00000298834.3:p.Ser592Tyr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1775C>A
  hgvsp: ENSP00000415327.2:p.Ser592Tyr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1505C>A
  hgvsp: ENSP00000433372.1:p.Ser502Tyr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1775C>A
  hgvsp: ENSP00000433945.1:p.Ser592Tyr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1775C>A
  hgvsp: ENSP00000431926.1:p.Ser592Tyr
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser502Tyr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

11-46563795-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563795
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563795
    reference: chr 11
allele count: 55
allele frequency: 4.536755972020589e-4
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1772A>G
  hgvsp: ENSP00000431926.1:p.Tyr591Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1772A>G
  hgvsp: ENSP00000415327.2:p.Tyr591Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1502A>G
  hgvsp: ENSP00000318313.3:p.Tyr501Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1772A>G
  hgvsp: ENSP00000298834.3:p.Tyr591Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1772A>G
  hgvsp: ENSP00000410899.1:p.Tyr591Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1772A>G
  hgvsp: ENSP00000433945.1:p.Tyr591Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1502A>G
  hgvsp: ENSP00000433372.1:p.Tyr501Cys
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23829
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr501Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

11-46563797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563797
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563797
    reference: chr 11
allele count: 4
allele frequency: 3.298370604921169e-5
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1770C>T
  hgvsp: ENST00000426438.1:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1770C>T
  hgvsp: ENST00000458649.2:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1770C>T
  hgvsp: ENST00000534300.1:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1500C>T
  hgvsp: ENST00000314845.3:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1500C>T
  hgvsp: ENST00000533727.1:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1770C>T
  hgvsp: ENST00000298834.3:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1770C>T
  hgvsp: ENST00000528950.1:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn500Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-46563802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563802
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563802
    reference: chr 11
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1495C>T
  hgvsp: ENSP00000318313.3:p.Pro499Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1765C>T
  hgvsp: ENSP00000431926.1:p.Pro589Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1495C>T
  hgvsp: ENSP00000433372.1:p.Pro499Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1765C>T
  hgvsp: ENSP00000410899.1:p.Pro589Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1765C>T
  hgvsp: ENSP00000415327.2:p.Pro589Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1765C>T
  hgvsp: ENSP00000433945.1:p.Pro589Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1765C>T
  hgvsp: ENSP00000298834.3:p.Pro589Ser
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro499Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

11-46563804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563804
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563804
    reference: chr 11
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1763C>T
  hgvsp: ENSP00000298834.3:p.Thr588Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1493C>T
  hgvsp: ENSP00000433372.1:p.Thr498Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1763C>T
  hgvsp: ENSP00000433945.1:p.Thr588Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1763C>T
  hgvsp: ENSP00000415327.2:p.Thr588Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1763C>T
  hgvsp: ENSP00000431926.1:p.Thr588Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1493C>T
  hgvsp: ENSP00000318313.3:p.Thr498Ile
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1763C>T
  hgvsp: ENSP00000410899.1:p.Thr588Ile
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr498Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

11-46563819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563819
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563819
    reference: chr 11
allele count: 5
allele frequency: 4.119023297195769e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1748G>A
  hgvsp: ENSP00000298834.3:p.Arg583His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1748G>A
  hgvsp: ENSP00000431926.1:p.Arg583His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1748G>A
  hgvsp: ENSP00000433945.1:p.Arg583His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1478G>A
  hgvsp: ENSP00000433372.1:p.Arg493His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1748G>A
  hgvsp: ENSP00000415327.2:p.Arg583His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1748G>A
  hgvsp: ENSP00000410899.1:p.Arg583His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1478G>A
  hgvsp: ENSP00000318313.3:p.Arg493His
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg493His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

11-46563820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563820
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563820
    reference: chr 11
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1477C>T
  hgvsp: ENSP00000318313.3:p.Arg493Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1747C>T
  hgvsp: ENSP00000410899.1:p.Arg583Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1747C>T
  hgvsp: ENSP00000431926.1:p.Arg583Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1747C>T
  hgvsp: ENSP00000415327.2:p.Arg583Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1477C>T
  hgvsp: ENSP00000433372.1:p.Arg493Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1747C>T
  hgvsp: ENSP00000433945.1:p.Arg583Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1747C>T
  hgvsp: ENSP00000298834.3:p.Arg583Cys
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg493Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

11-46563824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563824
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563824
    reference: chr 11
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1743C>T
  hgvsp: ENST00000458649.2:c.1743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1743C>T
  hgvsp: ENST00000534300.1:c.1743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1743C>T
  hgvsp: ENST00000426438.1:c.1743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1743C>T
  hgvsp: ENST00000298834.3:c.1743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1473C>T
  hgvsp: ENST00000533727.1:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1473C>T
  hgvsp: ENST00000314845.3:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1743C>T
  hgvsp: ENST00000528950.1:c.1743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr491Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-46563830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563830
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563830
    reference: chr 11
allele count: 45
allele frequency: 3.706815598280038e-4
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1737C>T
  hgvsp: ENST00000528950.1:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1467C>T
  hgvsp: ENST00000533727.1:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1737C>T
  hgvsp: ENST00000534300.1:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1737C>T
  hgvsp: ENST00000458649.2:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1737C>T
  hgvsp: ENST00000298834.3:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1737C>T
  hgvsp: ENST00000426438.1:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1467C>T
  hgvsp: ENST00000314845.3:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn489Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

11-46563831-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563831
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563831
    reference: chr 11
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1736A>G
  hgvsp: ENSP00000415327.2:p.Asn579Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1736A>G
  hgvsp: ENSP00000410899.1:p.Asn579Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1466A>G
  hgvsp: ENSP00000433372.1:p.Asn489Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1736A>G
  hgvsp: ENSP00000298834.3:p.Asn579Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1466A>G
  hgvsp: ENSP00000318313.3:p.Asn489Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1736A>G
  hgvsp: ENSP00000433945.1:p.Asn579Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1736A>G
  hgvsp: ENSP00000431926.1:p.Asn579Ser
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn489Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

11-46563850-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563850
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563850
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1717A>G
  hgvsp: ENSP00000415327.2:p.Asn573Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1717A>G
  hgvsp: ENSP00000410899.1:p.Asn573Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1717A>G
  hgvsp: ENSP00000431926.1:p.Asn573Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1447A>G
  hgvsp: ENSP00000433372.1:p.Asn483Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1447A>G
  hgvsp: ENSP00000318313.3:p.Asn483Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1717A>G
  hgvsp: ENSP00000298834.3:p.Asn573Asp
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1717A>G
  hgvsp: ENSP00000433945.1:p.Asn573Asp
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47435
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn483Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

11-46563851-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563851
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563851
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1716C>T
  hgvsp: ENST00000426438.1:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1446C>T
  hgvsp: ENST00000533727.1:c.1446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1716C>T
  hgvsp: ENST00000528950.1:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1716C>T
  hgvsp: ENST00000298834.3:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1446C>T
  hgvsp: ENST00000314845.3:c.1446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1716C>T
  hgvsp: ENST00000534300.1:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1716C>T
  hgvsp: ENST00000458649.2:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His482His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-46563861-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563861
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563861
    reference: chr 11
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1706G>A
  hgvsp: ENSP00000410899.1:p.Arg569His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1436G>A
  hgvsp: ENSP00000318313.3:p.Arg479His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1706G>A
  hgvsp: ENSP00000433945.1:p.Arg569His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1706G>A
  hgvsp: ENSP00000415327.2:p.Arg569His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1706G>A
  hgvsp: ENSP00000431926.1:p.Arg569His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1436G>A
  hgvsp: ENSP00000433372.1:p.Arg479His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1706G>A
  hgvsp: ENSP00000298834.3:p.Arg569His
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg479His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

11-46563872-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563872
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563872
    reference: chr 11
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1425G>C
  hgvsp: ENST00000314845.3:c.1425G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1425G>C
  hgvsp: ENST00000533727.1:c.1425G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1695G>C
  hgvsp: ENST00000534300.1:c.1695G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1695G>C
  hgvsp: ENST00000426438.1:c.1695G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1695G>C
  hgvsp: ENST00000298834.3:c.1695G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1695G>C
  hgvsp: ENST00000528950.1:c.1695G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1695G>C
  hgvsp: ENST00000458649.2:c.1695G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6655
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu475Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-46563882-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563882
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563882
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1685G>T
  hgvsp: ENSP00000415327.2:p.Arg562Leu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1415G>T
  hgvsp: ENSP00000433372.1:p.Arg472Leu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1685G>T
  hgvsp: ENSP00000410899.1:p.Arg562Leu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1685G>T
  hgvsp: ENSP00000298834.3:p.Arg562Leu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1685G>T
  hgvsp: ENSP00000433945.1:p.Arg562Leu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1415G>T
  hgvsp: ENSP00000318313.3:p.Arg472Leu
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1685G>T
  hgvsp: ENSP00000431926.1:p.Arg562Leu
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg472Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

11-46563882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563882
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563882
    reference: chr 11
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1685G>A
  hgvsp: ENSP00000431926.1:p.Arg562His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1685G>A
  hgvsp: ENSP00000298834.3:p.Arg562His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1685G>A
  hgvsp: ENSP00000433945.1:p.Arg562His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1415G>A
  hgvsp: ENSP00000318313.3:p.Arg472His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1685G>A
  hgvsp: ENSP00000410899.1:p.Arg562His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1685G>A
  hgvsp: ENSP00000415327.2:p.Arg562His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1415G>A
  hgvsp: ENSP00000433372.1:p.Arg472His
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg472His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

11-46563883-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563883
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563883
    reference: chr 11
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1684C>T
  hgvsp: ENSP00000433945.1:p.Arg562Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1684C>T
  hgvsp: ENSP00000410899.1:p.Arg562Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1684C>T
  hgvsp: ENSP00000415327.2:p.Arg562Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1684C>T
  hgvsp: ENSP00000431926.1:p.Arg562Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1684C>T
  hgvsp: ENSP00000298834.3:p.Arg562Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1414C>T
  hgvsp: ENSP00000318313.3:p.Arg472Cys
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1414C>T
  hgvsp: ENSP00000433372.1:p.Arg472Cys
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg472Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

11-46563887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563887
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563887
    reference: chr 11
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1680G>A
  hgvsp: ENST00000534300.1:c.1680G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1680G>A
  hgvsp: ENST00000528950.1:c.1680G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1410G>A
  hgvsp: ENST00000533727.1:c.1410G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1410G>A
  hgvsp: ENST00000314845.3:c.1410G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1680G>A
  hgvsp: ENST00000426438.1:c.1680G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1680G>A
  hgvsp: ENST00000298834.3:c.1680G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1680G>A
  hgvsp: ENST00000458649.2:c.1680G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24025
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu470Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-46563891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563891
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563891
    reference: chr 11
allele count: 11
allele frequency: 9.061104795795647e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1676A>G
  hgvsp: ENSP00000298834.3:p.Asn559Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1406A>G
  hgvsp: ENSP00000318313.3:p.Asn469Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1676A>G
  hgvsp: ENSP00000431926.1:p.Asn559Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1676A>G
  hgvsp: ENSP00000415327.2:p.Asn559Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1676A>G
  hgvsp: ENSP00000433945.1:p.Asn559Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1406A>G
  hgvsp: ENSP00000433372.1:p.Asn469Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1676A>G
  hgvsp: ENSP00000410899.1:p.Asn559Ser
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn469Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

11-46563891-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563891
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563891
    reference: chr 11
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1406A>C
  hgvsp: ENSP00000318313.3:p.Asn469Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1676A>C
  hgvsp: ENSP00000298834.3:p.Asn559Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1406A>C
  hgvsp: ENSP00000433372.1:p.Asn469Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1676A>C
  hgvsp: ENSP00000410899.1:p.Asn559Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1676A>C
  hgvsp: ENSP00000431926.1:p.Asn559Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1676A>C
  hgvsp: ENSP00000433945.1:p.Asn559Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1676A>C
  hgvsp: ENSP00000415327.2:p.Asn559Thr
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  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: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Asn469Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

11-46563903-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563903
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563903
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1664A>C
  hgvsp: ENSP00000431926.1:p.Glu555Ala
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1394A>C
  hgvsp: ENSP00000318313.3:p.Glu465Ala
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1664A>C
  hgvsp: ENSP00000298834.3:p.Glu555Ala
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1664A>C
  hgvsp: ENSP00000410899.1:p.Glu555Ala
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1664A>C
  hgvsp: ENSP00000415327.2:p.Glu555Ala
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1394A>C
  hgvsp: ENSP00000433372.1:p.Glu465Ala
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1664A>C
  hgvsp: ENSP00000433945.1:p.Glu555Ala
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu465Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

11-46563906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563906
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563906
    reference: chr 11
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1391G>A
  hgvsp: ENSP00000433372.1:p.Ser464Asn
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1661G>A
  hgvsp: ENSP00000415327.2:p.Ser554Asn
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1661G>A
  hgvsp: ENSP00000433945.1:p.Ser554Asn
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1661G>A
  hgvsp: ENSP00000431926.1:p.Ser554Asn
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1661G>A
  hgvsp: ENSP00000410899.1:p.Ser554Asn
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1391G>A
  hgvsp: ENSP00000318313.3:p.Ser464Asn
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1661G>A
  hgvsp: ENSP00000298834.3:p.Ser554Asn
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser464Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

11-46563911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563911
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563911
    reference: chr 11
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1656C>T
  hgvsp: ENST00000426438.1:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1386C>T
  hgvsp: ENST00000533727.1:c.1386C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1656C>T
  hgvsp: ENST00000298834.3:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1656C>T
  hgvsp: ENST00000458649.2:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1656C>T
  hgvsp: ENST00000534300.1:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1386C>T
  hgvsp: ENST00000314845.3:c.1386C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1656C>T
  hgvsp: ENST00000528950.1:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His462His
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

11-46563921-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563921
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563921
    reference: chr 11
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1646C>G
  hgvsp: ENSP00000431926.1:p.Pro549Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1376C>G
  hgvsp: ENSP00000433372.1:p.Pro459Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1646C>G
  hgvsp: ENSP00000298834.3:p.Pro549Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1646C>G
  hgvsp: ENSP00000415327.2:p.Pro549Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1646C>G
  hgvsp: ENSP00000433945.1:p.Pro549Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1376C>G
  hgvsp: ENSP00000318313.3:p.Pro459Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1646C>G
  hgvsp: ENSP00000410899.1:p.Pro549Arg
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro459Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

11-46563929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563929
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563929
    reference: chr 11
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1638C>T
  hgvsp: ENST00000528950.1:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1638C>T
  hgvsp: ENST00000458649.2:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1638C>T
  hgvsp: ENST00000534300.1:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1368C>T
  hgvsp: ENST00000533727.1:c.1368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1638C>T
  hgvsp: ENST00000298834.3:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1368C>T
  hgvsp: ENST00000314845.3:c.1368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1638C>T
  hgvsp: ENST00000426438.1:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser456Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

11-46563933-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563933
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563933
    reference: chr 11
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1364C>G
  hgvsp: ENSP00000318313.3:p.Pro455Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1634C>G
  hgvsp: ENSP00000415327.2:p.Pro545Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1364C>G
  hgvsp: ENSP00000433372.1:p.Pro455Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1634C>G
  hgvsp: ENSP00000298834.3:p.Pro545Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1634C>G
  hgvsp: ENSP00000431926.1:p.Pro545Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1634C>G
  hgvsp: ENSP00000433945.1:p.Pro545Arg
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1634C>G
  hgvsp: ENSP00000410899.1:p.Pro545Arg
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro455Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

11-46563934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563934
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563934
    reference: chr 11
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1633C>T
  hgvsp: ENSP00000410899.1:p.Pro545Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1633C>T
  hgvsp: ENSP00000415327.2:p.Pro545Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1633C>T
  hgvsp: ENSP00000433945.1:p.Pro545Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1633C>T
  hgvsp: ENSP00000431926.1:p.Pro545Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1363C>T
  hgvsp: ENSP00000318313.3:p.Pro455Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1633C>T
  hgvsp: ENSP00000298834.3:p.Pro545Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1363C>T
  hgvsp: ENSP00000433372.1:p.Pro455Ser
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro455Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

11-46563937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563937
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563937
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1630G>A
  hgvsp: ENSP00000298834.3:p.Gly544Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1360G>A
  hgvsp: ENSP00000433372.1:p.Gly454Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1630G>A
  hgvsp: ENSP00000415327.2:p.Gly544Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1360G>A
  hgvsp: ENSP00000318313.3:p.Gly454Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1630G>A
  hgvsp: ENSP00000433945.1:p.Gly544Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1630G>A
  hgvsp: ENSP00000431926.1:p.Gly544Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1630G>A
  hgvsp: ENSP00000410899.1:p.Gly544Ser
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly454Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

11-46563940-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563940
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563940
    reference: chr 11
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1627C>A
  hgvsp: ENSP00000433945.1:p.Pro543Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1627C>A
  hgvsp: ENSP00000410899.1:p.Pro543Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1627C>A
  hgvsp: ENSP00000298834.3:p.Pro543Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1357C>A
  hgvsp: ENSP00000433372.1:p.Pro453Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1627C>A
  hgvsp: ENSP00000415327.2:p.Pro543Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1627C>A
  hgvsp: ENSP00000431926.1:p.Pro543Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1357C>A
  hgvsp: ENSP00000318313.3:p.Pro453Thr
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro453Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

11-46563954-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563954
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563954
    reference: chr 11
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1613T>C
  hgvsp: ENSP00000431926.1:p.Ile538Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1343T>C
  hgvsp: ENSP00000318313.3:p.Ile448Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1613T>C
  hgvsp: ENSP00000415327.2:p.Ile538Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1613T>C
  hgvsp: ENSP00000298834.3:p.Ile538Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1613T>C
  hgvsp: ENSP00000433945.1:p.Ile538Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1343T>C
  hgvsp: ENSP00000433372.1:p.Ile448Thr
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1613T>C
  hgvsp: ENSP00000410899.1:p.Ile538Thr
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile448Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

11-46563967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563967
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563967
    reference: chr 11
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1600C>T
  hgvsp: ENSP00000298834.3:p.Leu534Phe
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1600C>T
  hgvsp: ENSP00000433945.1:p.Leu534Phe
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1600C>T
  hgvsp: ENSP00000415327.2:p.Leu534Phe
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1330C>T
  hgvsp: ENSP00000433372.1:p.Leu444Phe
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1330C>T
  hgvsp: ENSP00000318313.3:p.Leu444Phe
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1600C>T
  hgvsp: ENSP00000410899.1:p.Leu534Phe
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1600C>T
  hgvsp: ENSP00000431926.1:p.Leu534Phe
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu444Phe
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

11-46563983-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563983
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563983
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1584A>C
  hgvsp: ENSP00000431926.1:p.Gln528His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1584A>C
  hgvsp: ENSP00000433945.1:p.Gln528His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1584A>C
  hgvsp: ENSP00000298834.3:p.Gln528His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1584A>C
  hgvsp: ENSP00000410899.1:p.Gln528His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1314A>C
  hgvsp: ENSP00000433372.1:p.Gln438His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1314A>C
  hgvsp: ENSP00000318313.3:p.Gln438His
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1584A>C
  hgvsp: ENSP00000415327.2:p.Gln528His
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln438His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

11-46563988-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563988
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563988
    reference: chr 11
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1309A>T
  hgvsp: ENSP00000433372.1:p.Thr437Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1579A>T
  hgvsp: ENSP00000298834.3:p.Thr527Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1579A>T
  hgvsp: ENSP00000415327.2:p.Thr527Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1579A>T
  hgvsp: ENSP00000433945.1:p.Thr527Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1579A>T
  hgvsp: ENSP00000431926.1:p.Thr527Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1579A>T
  hgvsp: ENSP00000410899.1:p.Thr527Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1309A>T
  hgvsp: ENSP00000318313.3:p.Thr437Ser
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr437Ser
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: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

11-46563990-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563990
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563989
    reference: chr 11
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1576delC
  hgvsp: ENSP00000415327.2:p.Gln526ArgfsTer40
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1306delC
  hgvsp: ENSP00000433372.1:p.Gln436ArgfsTer40
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1306delC
  hgvsp: ENSP00000318313.3:p.Gln436ArgfsTer40
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1576delC
  hgvsp: ENSP00000431926.1:p.Gln526ArgfsTer40
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1576delC
  hgvsp: ENSP00000298834.3:p.Gln526ArgfsTer40
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1576delC
  hgvsp: ENSP00000410899.1:p.Gln526ArgfsTer40
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1576delC
  hgvsp: ENSP00000433945.1:p.Gln526ArgfsTer40
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln436ArgfsTer40
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: TG
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

11-46563994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46563994
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46563994
    reference: chr 11
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000415327
  ensembl transcript: ENST00000458649
  gene symbol: AMBRA1
  hgvsc: ENST00000458649.2:c.1573C>T
  hgvsp: ENSP00000415327.2:p.Pro525Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000410899
  ensembl transcript: ENST00000426438
  gene symbol: AMBRA1
  hgvsc: ENST00000426438.1:c.1573C>T
  hgvsp: ENSP00000410899.1:p.Pro525Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000318313
  ensembl transcript: ENST00000314845
  gene symbol: AMBRA1
  hgvsc: ENST00000314845.3:c.1303C>T
  hgvsp: ENSP00000318313.3:p.Pro435Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000298834
  ensembl transcript: ENST00000298834
  gene symbol: AMBRA1
  hgvsc: ENST00000298834.3:c.1573C>T
  hgvsp: ENSP00000298834.3:p.Pro525Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000431926
  ensembl transcript: ENST00000534300
  gene symbol: AMBRA1
  hgvsc: ENST00000534300.1:c.1573C>T
  hgvsp: ENSP00000431926.1:p.Pro525Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433945
  ensembl transcript: ENST00000528950
  gene symbol: AMBRA1
  hgvsc: ENST00000528950.1:c.1573C>T
  hgvsp: ENSP00000433945.1:p.Pro525Ser
  variant of: http://identifiers.org/hgnc/25990
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110497
  ensembl protein: ENSP00000433372
  ensembl transcript: ENST00000533727
  gene symbol: AMBRA1
  hgvsc: ENST00000533727.1:c.1303C>T
  hgvsp: ENSP00000433372.1:p.Pro435Ser
  variant of: http://identifiers.org/hgnc/25990
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro435Ser
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1196
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 500
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9686
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42142
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 10394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.902e-1

DP
type: SiteQuality
SIO_000300: 1.710175e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.699e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.918e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.938e0

QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 500
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9685
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1195
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1211
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42125
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.710115e6

VQSLOD
type: SiteQuality
SIO_000300: -3.925e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

FS
type: SiteQuality
SIO_000300: 4.687e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.642e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

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

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

GenotypeQuality
all individuals: 1211
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.771e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 7.47e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

DP
type: SiteQuality
SIO_000300: 1.709935e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.193e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

DP
type: SiteQuality
SIO_000300: 1.709749e6

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 4.509e0

QD
type: SiteQuality
SIO_000300: 9.01e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 9

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.198897014746433e-4
allele num: 66728
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: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.309e1

FS
type: SiteQuality
SIO_000300: 5.75e-1

DP
type: SiteQuality
SIO_000300: 1.709882e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.585e0

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-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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GenotypeQuality
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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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.271e0

FS
type: SiteQuality
SIO_000300: 2.854e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

QD
type: SiteQuality
SIO_000300: 1.288e1

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

DP
type: SiteQuality
SIO_000300: 1.7084e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.575e0

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 8.262e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

VQSLOD
type: SiteQuality
SIO_000300: -5.47e-2

DP
type: SiteQuality
SIO_000300: 1.705794e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.890173410404624e-4
allele num: 10380
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.705083e6

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.739e0

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 9.9e0

FS
type: SiteQuality
SIO_000300: 5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

GenotypeQuality
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variant carriers: 0

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

South Asian
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: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.701563e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.598e0

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.127e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.478e0

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10366
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European (Finnish)
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allele count: 0
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allele num: 6610
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South Asian
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allele frequency: 6.063545961678389e-5
allele num: 16492
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

Latino
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South Asian
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allele num: 16482
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Other
type: Population
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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MQ
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66478
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Latino
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num of homozygotes: 0

African
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allele frequency: 9.66183574879227e-5
allele num: 10350
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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DP
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MQ
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.679415e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.442e1

VQSLOD
type: SiteQuality
SIO_000300: -7.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.303e0

MQRankSum
type: SiteQuality
SIO_000300: -4.536e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
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GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508022680661117e-5
allele num: 66312
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.668879e6

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

FS
type: SiteQuality
SIO_000300: 1.547e0

QD
type: SiteQuality
SIO_000300: 1.247e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.474e0

MQRankSum
type: SiteQuality
SIO_000300: -5.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.79e-1

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512035805007863e-5
allele num: 66136
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
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: 16450
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.593e0

VQSLOD
type: SiteQuality
SIO_000300: -7.978e-1

FS
type: SiteQuality
SIO_000300: 2.235e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.593e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.246e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.811e0

DP
type: SiteQuality
SIO_000300: 1.647851e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1000
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65990
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.517e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

DP
type: SiteQuality
SIO_000300: 1.630607e6

FS
type: SiteQuality
SIO_000300: 1.403e0

QD
type: SiteQuality
SIO_000300: 1.362e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

GenotypeQuality
all individuals: 587
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 760
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
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variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 1.571e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.44e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 1.559911e6

GenotypeQuality
all individuals: 3323
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 741
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1931
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.9296875e-4
allele num: 10240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
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: 1
allele frequency: 1.527930570834861e-5
allele num: 65448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

FS
type: SiteQuality
SIO_000300: 7.655e0

DP
type: SiteQuality
SIO_000300: 1.553458e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 9.66e0

MQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.769441187964049e-5
allele num: 10236
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.549e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.028e0

VQSLOD
type: SiteQuality
SIO_000300: -1.981e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.53872e6

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534401276621862e-5
allele num: 65172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
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
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.123e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.503976e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.136e0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

Other
type: Population
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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: 65138
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 1.196172248803828e-4
allele num: 8360
num of homozygotes: 0

African
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -6.07e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.491204e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

GenotypeQuality
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variant carriers: 9

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.580152671755725e-4
allele num: 6550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.238728750923873e-5
allele num: 64944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.912e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.249e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 5.979e0

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

DP
type: SiteQuality
SIO_000300: 1.476209e6

GenotypeQuality
all individuals: 1838
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.210946960523129e-4
allele num: 8258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64586
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 3.117e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.447095e6

GenotypeQuality
all individuals: 293
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.112469437652811e-5
allele num: 16360
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 1.2543e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.438697e6

VQSLOD
type: SiteQuality
SIO_000300: -2.81e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.099e0

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 3332
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.218323586744639e-4
allele num: 8208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.087e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 6.427e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.95e-1

DP
type: SiteQuality
SIO_000300: 1.438218e6

GenotypeQuality
all individuals: 542
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1580
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GenotypeQuality
all individuals: 1023
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5329
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variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.900990099009902e-5
allele num: 10100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.522e0

MQRankSum
type: SiteQuality
SIO_000300: -6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 1.412e0

DP
type: SiteQuality
SIO_000300: 1.42298e6

QD
type: SiteQuality
SIO_000300: 1.253e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 1571
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
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variant carriers: 3

GenotypeQuality
all individuals: 4200
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GenotypeQuality
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GenotypeQuality
all individuals: 2910
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GenotypeQuality
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GenotypeQuality
all individuals: 1857
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 623
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GenotypeQuality
all individuals: 5327
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.833965032400049e-4
allele num: 16358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64258
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.497e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.574e0

QD
type: SiteQuality
SIO_000300: 1.121e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.425312e6

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

FS
type: SiteQuality
SIO_000300: 6.617e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 31754
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variant carriers: 0

GenotypeQuality
all individuals: 1770
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2368
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.222643354933366e-4
allele num: 16358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.979e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

FS
type: SiteQuality
SIO_000300: 2.414e0

DP
type: SiteQuality
SIO_000300: 1.42706e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
all individuals: 170
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2836
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556517137253681e-5
allele num: 64246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 2.414e0

QD
type: SiteQuality
SIO_000300: 1.239e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.979e0

DP
type: SiteQuality
SIO_000300: 1.42706e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1022
bin: 9.75e1
variant carriers: 9

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.893564962074871e-4
allele num: 8174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.054367745876604e-4
allele num: 16370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64308
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

QD
type: SiteQuality
SIO_000300: 1.249e1

FS
type: SiteQuality
SIO_000300: 5.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

DP
type: SiteQuality
SIO_000300: 1.435935e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5459
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GenotypeQuality
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GenotypeQuality
all individuals: 971
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GenotypeQuality
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GenotypeQuality
all individuals: 2568
bin: 3.25e1
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GenotypeQuality
all individuals: 829
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GenotypeQuality
all individuals: 34641
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GenotypeQuality
all individuals: 1152
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GenotypeQuality
all individuals: 1016
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 426
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64320
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

FS
type: SiteQuality
SIO_000300: 9.864000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.858e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.04e-1

DP
type: SiteQuality
SIO_000300: 1.447139e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.213e1

VQSLOD
type: SiteQuality
SIO_000300: -5.484e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1485
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550243388211949e-5
allele num: 64506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.765e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.496e0

FS
type: SiteQuality
SIO_000300: 3.249e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.471395e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

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

GenotypeQuality
all individuals: 436
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550243388211949e-5
allele num: 64506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.496e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 1.765e1

FS
type: SiteQuality
SIO_000300: 3.249e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 1.471395e6

GenotypeQuality
all individuals: 851
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548083472660846e-5
allele num: 64596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.39e-1

FS
type: SiteQuality
SIO_000300: 3.702e0

MQRankSum
type: SiteQuality
SIO_000300: -8.55e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 1.474641e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

GenotypeQuality
all individuals: 296
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 256
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GenotypeQuality
all individuals: 1056
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513867021920794e-5
allele num: 66056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.044e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.108e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.796e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 5.844e0

DP
type: SiteQuality
SIO_000300: 1.560973e6

QD
type: SiteQuality
SIO_000300: 1.581e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.359e0

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

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 46520
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 992
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variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011231894968231e-5
allele num: 66418
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.557885141294439e-4
allele num: 6582
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.391e1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

DP
type: SiteQuality
SIO_000300: 1.576872e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 1074
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1006
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GenotypeQuality
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GenotypeQuality
all individuals: 47088
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variant carriers: 0

GenotypeQuality
all individuals: 437
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variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.774783445620789e-4
allele num: 10390
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

DP
type: SiteQuality
SIO_000300: 1.583855e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.486e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.521e1

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 436
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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: 1120
bin: 9.75e1
variant carriers: 55

GenotypeQuality
all individuals: 47033
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.35021603456553e-4
allele num: 66656
num of homozygotes: 0

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

African
type: Population
allele count: 40
allele frequency: 3.849114703618168e-3
allele num: 10392
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.329004329004329e-4
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.587208e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.59e1

FS
type: SiteQuality
SIO_000300: 6.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6610
bin: 6.75e1
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GenotypeQuality
all individuals: 1080
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.596503375454388e-4
allele num: 11554
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.455e1

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

DP
type: SiteQuality
SIO_000300: 1.586639e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

FS
type: SiteQuality
SIO_000300: 2.228e0

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.553e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.587684e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.735e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 440
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GenotypeQuality
all individuals: 1006
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.09e-1

FS
type: SiteQuality
SIO_000300: 2.603e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.763e0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.398e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.588126e6

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 1853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47372
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993946114424431e-5
allele num: 66734
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.719e0

MQRankSum
type: SiteQuality
SIO_000300: -6.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.589617e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.184e1

GenotypeQuality
all individuals: 6648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
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variant carriers: 0

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

GenotypeQuality
all individuals: 47392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 8.25e1
variant carriers: 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: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 1.014e0

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

DP
type: SiteQuality
SIO_000300: 1.589645e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.112e1

GenotypeQuality
all individuals: 6649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1854
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.086e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
type: SiteQuality
SIO_000300: 1.589825e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.792e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.83e-1

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6645
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.544067847403279e-4
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.623208506703652e-4
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

DP
type: SiteQuality
SIO_000300: 1.593949e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

QD
type: SiteQuality
SIO_000300: 1.39e1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6659
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.884e0

DP
type: SiteQuality
SIO_000300: 1.590393e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 6660
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 1016
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variant carriers: 0

GenotypeQuality
all individuals: 1850
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1091
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variant carriers: 1

GenotypeQuality
all individuals: 502
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.03e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.179e1

DP
type: SiteQuality
SIO_000300: 1.590694e6

MQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.216e0

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 1850
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 6659
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variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 9.75e1
variant carriers: 1

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.590669e6

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.959e0

VQSLOD
type: SiteQuality
SIO_000300: -3.801e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.099e0

FS
type: SiteQuality
SIO_000300: 7.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeQuality
all individuals: 1848
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1014
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 47425
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.75e1
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: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

DP
type: SiteQuality
SIO_000300: 1.591053e6

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 1.131e0

QD
type: SiteQuality
SIO_000300: 1.244e1

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

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

GenotypeQuality
all individuals: 1012
bin: 8.25e1
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GenotypeQuality
all individuals: 1846
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

DP
type: SiteQuality
SIO_000300: 1.590623e6

MQ
type: SiteQuality
SIO_000300: 5.904e1

VQSLOD
type: SiteQuality
SIO_000300: -2.153e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

FS
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.037e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 441
bin: 8.75e1
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GenotypeQuality
all individuals: 1090
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.757e0

QD
type: SiteQuality
SIO_000300: 1.043e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.362e0

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.590737e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.362e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 1.757e0

QD
type: SiteQuality
SIO_000300: 1.043e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.590737e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
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: 908
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

DP
type: SiteQuality
SIO_000300: 1.59048e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.124e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1848
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variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

South Asian
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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: 6612
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.06e-1

DP
type: SiteQuality
SIO_000300: 1.590451e6

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

FS
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
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: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.991188635137565e-5
allele num: 66732
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 1.591776e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

QD
type: SiteQuality
SIO_000300: 1.3e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 9
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variant carriers: 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: 10402
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994125756758376e-5
allele num: 66732
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

QD
type: SiteQuality
SIO_000300: 1.3e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.275e0

MQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.6551e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e0

DP
type: SiteQuality
SIO_000300: 1.590028e6

VQSLOD
type: SiteQuality
SIO_000300: -6.586e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

QD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.589727e6

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: 0

GenotypeQuality
all individuals: 501
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GenotypeQuality
all individuals: 47291
bin: 6.25e1
variant carriers: 0

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

African
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European (Finnish)
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Latino
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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South Asian
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QD
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FS
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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South Asian
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allele num: 16512
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African
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Latino
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Other
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East Asian
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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FS
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MQ
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.58932e6

BaseQRankSum
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GenotypeQuality
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variant carriers: 1

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

Latino
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allele frequency: 0.0e0
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African
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allele num: 10400
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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DP
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MQRankSum
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ReadPosRankSum
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FS
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
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South Asian
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European (Non-Finnish)
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African
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allele num: 10400
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Other
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East Asian
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ClippingRankSum
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Finnish)
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Other
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Latino
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African
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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QD
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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South Asian
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African
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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VQSLOD
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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South Asian
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -1.506e0

DP
type: SiteQuality
SIO_000300: 1.590408e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.183e0

QD
type: SiteQuality
SIO_000300: 1.517e1

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47211
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1685
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1847
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.176e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.073e0

DP
type: SiteQuality
SIO_000300: 1.590312e6