7-122338615-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338615
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338615
    reference: chr 7
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-34992A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-34992A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.358A>G
  hgvsp: ENSP00000344489.2:p.Thr120Ala
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-34992A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-34992A>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11581
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr120Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum

7-122338626-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338626
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338626
    reference: chr 7
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.347T>C
  hgvsp: ENSP00000344489.2:p.Ile116Thr
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35003T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35003T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35003T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35003T>C
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8735
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile116Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

7-122338635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338635
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338635
    reference: chr 7
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35012C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.338C>T
  hgvsp: ENSP00000344489.2:p.Thr113Ile
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35012C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35012C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35012C>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11580
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
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genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr113Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS

7-122338639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338639
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338639
    reference: chr 7
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35016T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.334T>C
  hgvsp: ENSP00000344489.2:p.Phe112Leu
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35016T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35016T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35016T>C
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe112Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

7-122338639-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338639
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338639
    reference: chr 7
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35016T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35016T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35016T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.334T>A
  hgvsp: ENSP00000344489.2:p.Phe112Ile
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35016T>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe112Ile
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

7-122338644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338644
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338644
    reference: chr 7
allele count: 140
allele frequency: 1.153421542618926e-3
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35021G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35021G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.329G>A
  hgvsp: ENSP00000344489.2:p.Cys110Tyr
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35021G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35021G>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 9.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 14165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 2690
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28
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genotype quality: GenotypeQuality
  all individuals: 11637
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genotype quality: GenotypeQuality
  all individuals: 3843
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2819
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genotype quality: GenotypeQuality
  all individuals: 28309
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys110Tyr
num of homozygotes: 2
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-122338653-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338653
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338653
    reference: chr 7
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35030G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35030G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.320G>T
  hgvsp: ENSP00000344489.2:p.Arg107Leu
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35030G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35030G>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19501
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
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genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1750
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genotype depth: GenotypeDepth
  all individuals: 450
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genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2695
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg107Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

7-122338653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338653
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338653
    reference: chr 7
allele count: 31
allele frequency: 2.55408901412164e-4
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35030G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35030G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.320G>A
  hgvsp: ENSP00000344489.2:p.Arg107Gln
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35030G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35030G>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
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genotype depth: GenotypeDepth
  all individuals: 1750
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  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 12
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genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28385
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg107Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

7-122338654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338654
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338654
    reference: chr 7
allele count: 8
allele frequency: 6.590763045591603e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35031C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35031C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.319C>T
  hgvsp: ENSP00000344489.2:p.Arg107Trp
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35031C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35031C>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 7.75e1
  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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg107Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

7-122338659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338659
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338659
    reference: chr 7
allele count: 100
allele frequency: 8.2387253044209e-4
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35036T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35036T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35036T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.314T>C
  hgvsp: ENSP00000344489.2:p.Ile105Thr
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35036T>C
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 9.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  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: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  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: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile105Thr
num of homozygotes: 1
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

7-122338661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338661
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338661
    reference: chr 7
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35038T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35038T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35038T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.312T>C
  hgvsp: ENST00000340112.2:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35038T>C
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu104Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

7-122338664-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338664
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338664
    reference: chr 7
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.309A>G
  hgvsp: ENST00000340112.2:c.309A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35041A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35041A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35041A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35041A>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala103Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

7-122338664-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338664
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338664
    reference: chr 7
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35041A>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.309A>C
  hgvsp: ENST00000340112.2:c.309A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35041A>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35041A>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35041A>C
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala103Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

7-122338672-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338672
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338671
    reference: chr 7
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.300delC
  hgvsp: ENSP00000344489.2:p.Trp101GlyfsTer27
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35050delC
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35050delC
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35050delC
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35050delC
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Trp101GlyfsTer27
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: AG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

7-122338690-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338690
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338690
    reference: chr 7
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35067T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35067T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35067T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35067T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.283T>C
  hgvsp: ENSP00000344489.2:p.Ser95Pro
  variant of: http://identifiers.org/hgnc/21154
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser95Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

7-122338690-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338690
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338690
    reference: chr 7
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.283T>A
  hgvsp: ENSP00000344489.2:p.Ser95Thr
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35067T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35067T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35067T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35067T>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser95Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/7-122338692-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338692
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338692
    reference: chr 7
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35069G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.281G>T
  hgvsp: ENSP00000344489.2:p.Arg94Leu
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35069G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35069G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35069G>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28260
  bin: 6.25e1
  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: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11469
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg94Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

7-122338692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338692
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338692
    reference: chr 7
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35069G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.281G>A
  hgvsp: ENSP00000344489.2:p.Arg94Gln
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35069G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35069G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35069G>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11469
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg94Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

7-122338693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338693
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338693
    reference: chr 7
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35070C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.280C>T
  hgvsp: ENSP00000344489.2:p.Arg94Ter
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35070C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35070C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35070C>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11467
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  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: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg94Ter
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

7-122338697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338697
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338697
    reference: chr 7
allele count: 5
allele frequency: 4.121128200056047e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.276C>T
  hgvsp: ENST00000340112.2:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35074C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35074C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35074C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35074C>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe92Phe
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

7-122338702-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338702
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338702
    reference: chr 7
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35079A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35079A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.271A>G
  hgvsp: ENSP00000344489.2:p.Ile91Val
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35079A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35079A>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11462
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile91Val
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

7-122338704-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338704
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338704
    reference: chr 7
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35081C>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.269C>A
  hgvsp: ENSP00000344489.2:p.Thr90Asn
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35081C>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35081C>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35081C>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr90Asn
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

7-122338709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338709
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338709
    reference: chr 7
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.264C>T
  hgvsp: ENST00000340112.2:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35086C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35086C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35086C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35086C>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28193
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro88Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

7-122338711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338711
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338711
    reference: chr 7
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35088C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.262C>T
  hgvsp: ENSP00000344489.2:p.Pro88Ser
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35088C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35088C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35088C>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro88Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

7-122338726-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338726
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338726
    reference: chr 7
allele count: 6
allele frequency: 4.948453608247422e-5
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35103C>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35103C>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35103C>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.247C>A
  hgvsp: ENSP00000344489.2:p.Gln83Lys
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35103C>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19361
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln83Lys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

7-122338734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338734
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338734
    reference: chr 7
allele count: 3
allele frequency: 2.474594166556685e-5
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.239G>A
  hgvsp: ENSP00000344489.2:p.Gly80Glu
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35111G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35111G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35111G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35111G>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8698
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly80Glu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

7-122338744-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338744
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338744
    reference: chr 7
allele count: 4
allele frequency: 3.300438958381465e-5
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35121C>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35121C>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.229C>G
  hgvsp: ENSP00000344489.2:p.Pro77Ala
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35121C>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35121C>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11451
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro77Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

7-122338746-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338746
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338746
    reference: chr 7
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35123T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35123T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.227T>A
  hgvsp: ENSP00000344489.2:p.Val76Glu
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35123T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35123T>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11453
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Val76Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-122338748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338748
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338748
    reference: chr 7
allele count: 29
allele frequency: 2.392818244826562e-4
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.225A>G
  hgvsp: ENSP00000344489.2:p.Ile75Met
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35125A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35125A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35125A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35125A>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11456
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile75Met
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

7-122338750-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338750
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338750
    reference: chr 7
allele count: 4
allele frequency: 3.300384494793644e-5
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35127A>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35127A>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.223A>T
  hgvsp: ENSP00000344489.2:p.Ile75Leu
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35127A>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35127A>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile75Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

7-122338751-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338751
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338751
    reference: chr 7
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35128T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35128T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35128T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35128T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.222T>C
  hgvsp: ENST00000340112.2:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21154
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11431
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val74Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/7-122338752-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338752
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338752
    reference: chr 7
allele count: 140
allele frequency: 1.160112033676395e-3
allele num: 120678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35129T>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.221T>G
  hgvsp: ENSP00000344489.2:p.Val74Gly
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35129T>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35129T>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35129T>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 9.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26713
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11204
  bin: 9.75e1
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val74Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

7-122338753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338753
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338753
    reference: chr 7
allele count: 3
allele frequency: 2.475696908679793e-5
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35130G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35130G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35130G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35130G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.220G>A
  hgvsp: ENSP00000344489.2:p.Val74Ile
  variant of: http://identifiers.org/hgnc/21154
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11695
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val74Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

7-122338754-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338754
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338754
    reference: chr 7
allele count: 726
allele frequency: 6.419892824929699e-3
allele num: 113086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35131A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35131A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35131A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35131A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.219A>G
  hgvsp: ENST00000340112.2:c.219A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21154
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13948
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 9.75e1
  variant carriers: 561
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 18673
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 26360
  bin: 6.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 7919
  bin: 9.75e1
  variant carriers: 569
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 12
hgvs: p.Gly73Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

7-122338756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338756
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338756
    reference: chr 7
allele count: 6
allele frequency: 4.950168305722395e-5
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35133G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35133G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35133G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35133G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.217G>A
  hgvsp: ENSP00000344489.2:p.Gly73Arg
  variant of: http://identifiers.org/hgnc/21154
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly73Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

7-122338757-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338757
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338757
    reference: chr 7
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35134A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35134A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.216A>G
  hgvsp: ENST00000340112.2:c.216A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35134A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35134A>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15172
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala72Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

7-122338767-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338767
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338767
    reference: chr 7
allele count: 3
allele frequency: 2.474512521033356e-5
allele num: 121236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35144A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35144A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35144A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.206A>G
  hgvsp: ENSP00000344489.2:p.Lys69Arg
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35144A>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys69Arg
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

7-122338770-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338770
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338770
    reference: chr 7
allele count: 84
allele frequency: 6.928977975748577e-4
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35147T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35147T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.203T>C
  hgvsp: ENSP00000344489.2:p.Leu68Ser
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35147T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35147T>C
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15154
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20400
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8808
  bin: 9.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu68Ser
num of homozygotes: 1
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

7-122338788-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338788
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338788
    reference: chr 7
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35165T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35165T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.185T>C
  hgvsp: ENSP00000344489.2:p.Phe62Ser
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35165T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35165T>C
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20428
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe62Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

7-122338791-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338791
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338791
    reference: chr 7
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35168T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35168T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35168T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35168T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.182T>A
  hgvsp: ENSP00000344489.2:p.Val61Asp
  variant of: http://identifiers.org/hgnc/21154
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29631
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val61Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-122338794-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338794
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338792
    reference: chr 7
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35173_454-35172delTG
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35173_454-35172delTG
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35173_454-35172delTG
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35173_454-35172delTG
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.177_178delTG
  hgvsp: ENSP00000344489.2:p.Gly60SerfsTer27
  variant of: http://identifiers.org/hgnc/21154
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9052
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly60SerfsTer27
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: CCA
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

7-122338801-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338801
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338801
    reference: chr 7
allele count: 3
allele frequency: 2.474757473767571e-5
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.172G>A
  hgvsp: ENSP00000344489.2:p.Glu58Lys
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35178G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35178G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35178G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35178G>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu58Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-122338805-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338805
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338805
    reference: chr 7
allele count: 2
allele frequency: 1.650137786505173e-5
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35182G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35182G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35182G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35182G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.168G>T
  hgvsp: ENSP00000344489.2:p.Leu56Phe
  variant of: http://identifiers.org/hgnc/21154
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8732
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu56Phe
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

7-122338807-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338807
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338807
    reference: chr 7
allele count: 13
allele frequency: 1.072447986272666e-4
allele num: 121218
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.166T>C
  hgvsp: ENST00000340112.2:c.166T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35184T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35184T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35184T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35184T>C
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu56Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

7-122338817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338817
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338817
    reference: chr 7
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.156G>A
  hgvsp: ENST00000340112.2:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35194G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35194G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35194G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35194G>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val52Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/7-122338819-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338819
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338819
    reference: chr 7
allele count: 9
allele frequency: 7.426600432393181e-5
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.154G>T
  hgvsp: ENSP00000344489.2:p.Val52Leu
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35196G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35196G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35196G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35196G>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20708
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15190
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val52Leu
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

7-122338819-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338819
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338817
    reference: chr 7
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35198_454-35197delAT
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35198_454-35197delAT
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.152_153delAT
  hgvsp: ENSP00000344489.2:p.His51ArgfsTer36
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35198_454-35197delAT
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35198_454-35197delAT
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8722
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3983
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His51ArgfsTer36
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: CAT
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

7-122338822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338822
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338822
    reference: chr 7
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.151C>T
  hgvsp: ENSP00000344489.2:p.His51Tyr
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35199C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35199C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35199C>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35199C>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His51Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-122338826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338826
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338826
    reference: chr 7
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35203G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35203G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.147G>A
  hgvsp: ENST00000340112.2:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35203G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35203G>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly49Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-122338831-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338831
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338831
    reference: chr 7
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35208G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35208G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35208G>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.142G>T
  hgvsp: ENSP00000344489.2:p.Val48Phe
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35208G>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8713
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val48Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

7-122338833-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338833
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338833
    reference: chr 7
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.140A>T
  hgvsp: ENSP00000344489.2:p.His47Leu
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35210A>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35210A>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35210A>T
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35210A>T
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8713
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His47Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

7-122338836-AATGAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338836
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338831
    reference: chr 7
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.132_136delATCAT
  hgvsp: ENSP00000344489.2:p.Phe46CysfsTer40
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe46CysfsTer40
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: AATGAT
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

7-122338838-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338838
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338838
    reference: chr 7
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35215A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.135A>G
  hgvsp: ENST00000340112.2:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35215A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35215A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35215A>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8711
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser45Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

7-122338839-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338839
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338839
    reference: chr 7
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.134C>A
  hgvsp: ENSP00000344489.2:p.Ser45Ter
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35216C>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35216C>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35216C>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35216C>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8710
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser45Ter
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

7-122338843-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338843
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338843
    reference: chr 7
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35220A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35220A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.130A>G
  hgvsp: ENSP00000344489.2:p.Ile44Val
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35220A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35220A>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8707
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile44Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-122338852-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338852
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338852
    reference: chr 7
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.121T>C
  hgvsp: ENSP00000344489.2:p.Tyr41His
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35229T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35229T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35229T>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35229T>C
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9032
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr41His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

7-122338855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338855
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338855
    reference: chr 7
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35232G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.118G>A
  hgvsp: ENSP00000344489.2:p.Ala40Thr
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35232G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35232G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35232G>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala40Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/7-122338860-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338860
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338861
    reference: chr 7
allele count: 3
allele frequency: 2.485007123687088e-5
allele num: 120724
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35238dupT
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35238dupT
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.112dupT
  hgvsp: ENSP00000344489.2:p.Trp38LeufsTer50
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35238dupT
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35238dupT
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp38LeufsTer50
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

7-122338860-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338860
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338860
    reference: chr 7
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35237G>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35237G>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.113G>C
  hgvsp: ENSP00000344489.2:p.Trp38Ser
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35237G>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35237G>C
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8706
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp38Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

7-122338867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338867
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338867
    reference: chr 7
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.106G>A
  hgvsp: ENSP00000344489.2:p.Val36Ile
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35244G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35244G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35244G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35244G>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val36Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

7-122338869-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338869
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338869
    reference: chr 7
allele count: 2
allele frequency: 1.660881263598465e-5
allele num: 120418
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35246G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35246G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35246G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35246G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.104G>A
  hgvsp: ENSP00000344489.2:p.Ser35Asn
  variant of: http://identifiers.org/hgnc/21154
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8702
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser35Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

7-122338875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338875
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338875
    reference: chr 7
allele count: 1
allele frequency: 8.317945134833891e-6
allele num: 120222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35252G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.98G>A
  hgvsp: ENSP00000344489.2:p.Arg33Lys
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35252G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35252G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35252G>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg33Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

7-122338885-TCTGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338885
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338881
    reference: chr 7
allele count: 3
allele frequency: 2.508864655114739e-5
allele num: 119576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35266_454-35263delTCAG
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35266_454-35263delTCAG
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.84_87delTCAG
  hgvsp: ENSP00000344489.2:p.Ser28ArgfsTer14
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35266_454-35263delTCAG
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35266_454-35263delTCAG
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6385
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8700
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser28ArgfsTer14
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TCTGA
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

7-122338887-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338887
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338887
    reference: chr 7
allele count: 2
allele frequency: 1.674565031733007e-5
allele num: 119434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35264A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35264A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35264A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.86A>G
  hgvsp: ENSP00000344489.2:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35264A>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln29Arg
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-122338891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338891
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338891
    reference: chr 7
allele count: 4
allele frequency: 3.360723227638588e-5
allele num: 119022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35268A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35268A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.82A>G
  hgvsp: ENSP00000344489.2:p.Ser28Gly
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35268A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35268A>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8696
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser28Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-122338894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338894
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338894
    reference: chr 7
allele count: 1
allele frequency: 8.425735566714975e-6
allele num: 118684
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35271G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35271G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35271G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35271G>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.79G>A
  hgvsp: ENSP00000344489.2:p.Val27Ile
  variant of: http://identifiers.org/hgnc/21154
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val27Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

7-122338898-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338898
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338898
    reference: chr 7
allele count: 1
allele frequency: 8.469265037180074e-6
allele num: 118074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35275G>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.75G>C
  hgvsp: ENSP00000344489.2:p.Trp25Cys
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35275G>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35275G>C
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35275G>C
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19424
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp25Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-122338920-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338920
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338920
    reference: chr 7
allele count: 4
allele frequency: 3.496259002866932e-5
allele num: 114408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35297T>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35297T>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35297T>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.53T>G
  hgvsp: ENSP00000344489.2:p.Leu18Arg
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35297T>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8688
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu18Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

7-122338924-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338924
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338924
    reference: chr 7
allele count: 1
allele frequency: 8.79476535566031e-6
allele num: 113704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35301T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.49T>A
  hgvsp: ENSP00000344489.2:p.Trp17Arg
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35301T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35301T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35301T>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4935
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp17Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

7-122338930-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338930
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338930
    reference: chr 7
allele count: 574
allele frequency: 5.072194828835516e-3
allele num: 113166
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35307T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35307T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35307T>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.43T>A
  hgvsp: ENSP00000344489.2:p.Ser15Thr
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35307T>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 17562
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14369
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24150
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser15Thr
num of homozygotes: 13
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

7-122338938-TTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338938
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338936
    reference: chr 7
allele count: 1
allele frequency: 8.917901796065422e-6
allele num: 112134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35317_454-35316delCA
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.33_34delCA
  hgvsp: ENSP00000344489.2:p.Asn11LysfsTer17
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35317_454-35316delCA
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35317_454-35316delCA
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35317_454-35316delCA
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn11LysfsTer17
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: TTG
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-122338940-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338940
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338940
    reference: chr 7
allele count: 1
allele frequency: 8.953673692315957e-6
allele num: 111686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35317C>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.33C>A
  hgvsp: ENSP00000344489.2:p.Asn11Lys
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35317C>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35317C>A
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35317C>A
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4872
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8518
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn11Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

7-122338950-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338950
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338950
    reference: chr 7
allele count: 1
allele frequency: 9.031955056991637e-6
allele num: 110718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35327C>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35327C>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35327C>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35327C>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.23C>G
  hgvsp: ENSP00000344489.2:p.Thr8Ser
  variant of: http://identifiers.org/hgnc/21154
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr8Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-122338960-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122338960
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 122338960
    reference: chr 7
allele count: 1
allele frequency: 9.152647861026195e-6
allele num: 109258
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000398481
  ensembl transcript: ENST00000449022
  gene symbol: CADPS2
  hgvsc: ENST00000449022.2:c.454-35337A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000325581
  ensembl transcript: ENST00000313070
  gene symbol: CADPS2
  hgvsc: ENST00000313070.7:c.454-35337A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000333940
  ensembl transcript: ENST00000334010
  gene symbol: CADPS2
  hgvsc: ENST00000334010.7:c.454-35337A>G
  variant of: http://identifiers.org/hgnc/16018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188050
  ensembl protein: ENSP00000344489
  ensembl transcript: ENST00000340112
  gene symbol: RNF133
  hgvsc: ENST00000340112.2:c.13A>G
  hgvsp: ENSP00000344489.2:p.Lys5Glu
  variant of: http://identifiers.org/hgnc/21154
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081803
  ensembl protein: ENSP00000400401
  ensembl transcript: ENST00000412584
  gene symbol: CADPS2
  hgvsc: ENST00000412584.2:c.454-35337A>G
  variant of: http://identifiers.org/hgnc/16018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8252
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys5Glu
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 3843
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1512
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
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

FS
type: SiteQuality
SIO_000300: 1.841e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

QD
type: SiteQuality
SIO_000300: 1.433e1

DP
type: SiteQuality
SIO_000300: 2.25819e6

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e-1

DP
type: SiteQuality
SIO_000300: 2.258304e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.543e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.89e-1

FS
type: SiteQuality
SIO_000300: 2.738e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

GenotypeQuality
all individuals: 8738
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1512
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

DP
type: SiteQuality
SIO_000300: 2.258609e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.829999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.126e0

QD
type: SiteQuality
SIO_000300: 1.675e1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 11580
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1511
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

Latino
type: Population
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: 16510
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

FS
type: SiteQuality
SIO_000300: 4.977e0

DP
type: SiteQuality
SIO_000300: 2.258573e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 9.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.04e-1

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11580
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 9.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 2.258573e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

FS
type: SiteQuality
SIO_000300: 4.977e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.04e-1

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

GenotypeQuality
all individuals: 1101
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1508
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 140
allele frequency: 8.48073661255149e-3
allele num: 16508
num of homozygotes: 2

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-2

DP
type: SiteQuality
SIO_000300: 2.270159e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.148e0

FS
type: SiteQuality
SIO_000300: 1.127e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

GenotypeQuality
all individuals: 11514
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28385
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

QD
type: SiteQuality
SIO_000300: 1.189e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 2.260178e6

GenotypeQuality
all individuals: 1511
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3855
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2823
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11514
bin: 9.75e1
variant carriers: 31

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

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

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

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

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

East Asian
type: Population
allele count: 28
allele frequency: 3.235498035590478e-3
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.260178e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.189e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

GenotypeQuality
all individuals: 8758
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11485
bin: 9.75e1
variant carriers: 8

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2824
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.493330935467435e-5
allele num: 66726
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
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: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.199e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

DP
type: SiteQuality
SIO_000300: 2.256319e6

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 1.746e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 2824
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11488
bin: 9.75e1
variant carriers: 99

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 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: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 53
allele frequency: 8.013305110371939e-3
allele num: 6614
num of homozygotes: 1

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

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 6.444264604501994e-4
allele num: 66726
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e0

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.48e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.516e1

DP
type: SiteQuality
SIO_000300: 2.268816e6

GenotypeQuality
all individuals: 11473
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2827
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 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: 6614
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 10390
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 2.25506e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.709e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.778999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11472
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
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 (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496133325340207e-5
allele num: 66724
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: 10388
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: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.16e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

DP
type: SiteQuality
SIO_000300: 2.255306e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.386e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3859
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11472
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2694
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
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: 66724
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: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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: 4.23e-1

FS
type: SiteQuality
SIO_000300: 5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.386e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.255306e6

GenotypeQuality
all individuals: 2694
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
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: 10374
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: 7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 1.784e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.271e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.254574e6

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQ
type: SiteQuality
SIO_000300: 6.022e1

GenotypeQuality
all individuals: 3858
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 8.25e1
variant carriers: 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: 6614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

FS
type: SiteQuality
SIO_000300: 3.302e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.253638e6

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

GenotypeQuality
all individuals: 11470
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2827
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 3.302e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

DP
type: SiteQuality
SIO_000300: 2.253638e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 1.21e1

GenotypeQuality
all individuals: 77
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2826
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 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: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 1.143e0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

DP
type: SiteQuality
SIO_000300: 2.253622e6

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

GenotypeQuality
all individuals: 77
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8760
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2826
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
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

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

DP
type: SiteQuality
SIO_000300: 2.253622e6

FS
type: SiteQuality
SIO_000300: 1.143e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

GenotypeQuality
all individuals: 2825
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28247
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 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: 906
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: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.253372e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

MQ
type: SiteQuality
SIO_000300: 5.831e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.598000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.02e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 1.155e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11465
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.127e0

DP
type: SiteQuality
SIO_000300: 2.253675e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.158e0

QD
type: SiteQuality
SIO_000300: 1.292e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

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

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

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
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

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: 10334
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 2.252745e6

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

GenotypeQuality
all individuals: 11459
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28229
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3854
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.285e0

QD
type: SiteQuality
SIO_000300: 1.101e1

MQ
type: SiteQuality
SIO_000300: 5.869e1

FS
type: SiteQuality
SIO_000300: 5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.475e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.252632e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

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

GenotypeQuality
all individuals: 8753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3854
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: -1.68e0

VQSLOD
type: SiteQuality
SIO_000300: -1.141e-1

FS
type: SiteQuality
SIO_000300: 4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.628e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 2.252327e6

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeQuality
all individuals: 2821
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28207
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
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: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.902e1

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.656e0

DP
type: SiteQuality
SIO_000300: 2.252098e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

GenotypeQuality
all individuals: 28038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11459
bin: 9.75e1
variant carriers: 6

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

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: 10326
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.997930475990522e-5
allele num: 66682
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.431e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.183e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.250757e6

QD
type: SiteQuality
SIO_000300: 1.316e1

MQRankSum
type: SiteQuality
SIO_000300: 7.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11455
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 27791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 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: 10322
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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499910001799964e-5
allele num: 66668
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: 16500
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

DP
type: SiteQuality
SIO_000300: 2.248916e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.427e0

QD
type: SiteQuality
SIO_000300: 1.218e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27483
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.537205081669691e-4
allele num: 6612
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: -1.657e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.505e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 2.62e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

FS
type: SiteQuality
SIO_000300: 5.7794e1

VQSLOD
type: SiteQuality
SIO_000300: -1.677e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.307e0

DP
type: SiteQuality
SIO_000300: 2.246784e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
all individuals: 8678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2813
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27433
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 2.246532e6

VQSLOD
type: SiteQuality
SIO_000300: -3.614e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: -1.709e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

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

GenotypeQuality
all individuals: 3845
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 29
allele frequency: 2.510387811634349e-3
allele num: 11552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
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: 16482
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 2.247456e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

QD
type: SiteQuality
SIO_000300: 1.554e1

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3848
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11430
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2814
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001200480192077e-5
allele num: 66640
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.52e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 2.264e0

MQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-1

DP
type: SiteQuality
SIO_000300: 2.244942e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27093
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8647
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
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: 8652
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.832e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e0

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.772e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e0

DP
type: SiteQuality
SIO_000300: 2.245014e6

GenotypeQuality
all individuals: 278
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3815
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 65
allele frequency: 9.788566953797965e-4
allele num: 66404
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.271382339343504e-3
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 37
allele frequency: 5.711639394874961e-3
allele num: 6478
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.658213031603589e-3
allele num: 10252
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.645643456069996e-4
allele num: 16458
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.48e0

FS
type: SiteQuality
SIO_000300: 1.12432e2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.312e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 2.257047e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.857e1

GenotypeQuality
all individuals: 187
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3842
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.931620629708325e-4
allele num: 10354
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

FS
type: SiteQuality
SIO_000300: 4.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 2.272596e6

QD
type: SiteQuality
SIO_000300: 1.21e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
all individuals: 297
bin: 4.25e1
variant carriers: 16

GenotypeQuality
all individuals: 3678
bin: 7.75e1
variant carriers: 8

GenotypeQuality
all individuals: 8310
bin: 6.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1396
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 2526
bin: 8.25e1
variant carriers: 11

Latino
type: Population
allele count: 23
allele frequency: 2.053204784859846e-3
allele num: 11202
num of homozygotes: 0

African
type: Population
allele count: 111
allele frequency: 1.235804943219773e-2
allele num: 8982
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 1.408278226794024e-3
allele num: 16332
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 7.481296758104738e-3
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 73
allele frequency: 1.290664780763791e-2
allele num: 5656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 405
allele frequency: 6.558067232333701e-3
allele num: 61756
num of homozygotes: 0

East Asian
type: Population
allele count: 85
allele frequency: 1.017233125897559e-2
allele num: 8356
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.27817e2

DP
type: SiteQuality
SIO_000300: 2.462375e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.006e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.461e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.591e0

QD
type: SiteQuality
SIO_000300: 2.45e0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8799
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 9.25e1
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GenotypeQuality
all individuals: 90
bin: 5.75e1
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: 11550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
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: 16476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.503001200480192e-5
allele num: 66640
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.267e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.764e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 2.079915e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.574e0

GenotypeQuality
all individuals: 1547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 8796
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9129
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.845e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.672e0

FS
type: SiteQuality
SIO_000300: 1.477e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.505e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.969e0

VQSLOD
type: SiteQuality
SIO_000300: -3.27e0

DP
type: SiteQuality
SIO_000300: 2.079478e6

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
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variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8792
bin: 9.75e1
variant carriers: 3

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
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: 16472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.195e0

QD
type: SiteQuality
SIO_000300: 1.754e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.081e0

VQSLOD
type: SiteQuality
SIO_000300: -1.548e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.01e-1

DP
type: SiteQuality
SIO_000300: 2.079211e6

GenotypeQuality
all individuals: 2744
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9103
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.190311418685121e-4
allele num: 11560
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

African
type: Population
allele count: 78
allele frequency: 7.515899017151667e-3
allele num: 10378
num of homozygotes: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.532e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.35e-2

DP
type: SiteQuality
SIO_000300: 2.082739e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 9059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29564
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
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: -9.23e-1

DP
type: SiteQuality
SIO_000300: 2.077235e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

QD
type: SiteQuality
SIO_000300: 1.34e1

VQSLOD
type: SiteQuality
SIO_000300: -8.649999999999999e-2

FS
type: SiteQuality
SIO_000300: 3.682e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.385e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 1101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9065
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2908
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8737
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.31e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

DP
type: SiteQuality
SIO_000300: 2.077452e6

GenotypeQuality
all individuals: 2750
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8737
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.288e0

FS
type: SiteQuality
SIO_000300: 1.581e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 2.077693e6

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.609e1

MQ
type: SiteQuality
SIO_000300: 6.04e1

GenotypeQuality
all individuals: 9064
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8735
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3991
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29860
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.50220608097968e-5
allele num: 66634
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.249e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

DP
type: SiteQuality
SIO_000300: 2.07899e6

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.022e0

FS
type: SiteQuality
SIO_000300: 4.951e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3985
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9054
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.08e-1

DP
type: SiteQuality
SIO_000300: 2.079363e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.964e0

QD
type: SiteQuality
SIO_000300: 1.19e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

GenotypeQuality
all individuals: 1103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8730
bin: 9.75e1
variant carriers: 13

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.123595505617978e-3
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.16e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e0

FS
type: SiteQuality
SIO_000300: 1.104e0

QD
type: SiteQuality
SIO_000300: 1.377e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

DP
type: SiteQuality
SIO_000300: 2.08038e6

GenotypeQuality
all individuals: 2907
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8718
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1551
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
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: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
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: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.51e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.034e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.364e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

VQSLOD
type: SiteQuality
SIO_000300: -1.809e0

DP
type: SiteQuality
SIO_000300: 2.079368e6

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3983
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8722
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 9074
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.463817387081107e-4
allele num: 16472
num of homozygotes: 1

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.59e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

FS
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.71e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.469e0

DP
type: SiteQuality
SIO_000300: 2.079552e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30124
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9074
bin: 6.75e1
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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
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: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

DP
type: SiteQuality
SIO_000300: 2.079552e6

QD
type: SiteQuality
SIO_000300: 1.71e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.469e0

FS
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.59e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

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

GenotypeQuality
all individuals: 3982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 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: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 9.01e0

DP
type: SiteQuality
SIO_000300: 2.079111e6

VQSLOD
type: SiteQuality
SIO_000300: -1.451e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.66e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2907
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9084
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 10360
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: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 5.49e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: -9.939e-1

DP
type: SiteQuality
SIO_000300: 2.078899e6

MQRankSum
type: SiteQuality
SIO_000300: -1.802e0

QD
type: SiteQuality
SIO_000300: 1.203e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.912e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.243e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
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: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
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: 8646
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.112e0

DP
type: SiteQuality
SIO_000300: 2.078526e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

FS
type: SiteQuality
SIO_000300: 2.407e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.268e1

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: -8.525e-1

DP
type: SiteQuality
SIO_000300: 2.077985e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

FS
type: SiteQuality
SIO_000300: 1.064e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.216e0

QD
type: SiteQuality
SIO_000300: 1.463e1

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 16470
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.032e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.968e0

FS
type: SiteQuality
SIO_000300: 6.711e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

MQ
type: SiteQuality
SIO_000300: 5.12e1

DP
type: SiteQuality
SIO_000300: 2.077792e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 5.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

QD
type: SiteQuality
SIO_000300: 1.391e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.077439e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.656e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3983
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.19e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.845e0

FS
type: SiteQuality
SIO_000300: 2.721e0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

DP
type: SiteQuality
SIO_000300: 2.077387e6

VQSLOD
type: SiteQuality
SIO_000300: -2.6e-3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
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: 8646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.284e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

DP
type: SiteQuality
SIO_000300: 2.076591e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506250941406838e-5
allele num: 66390
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
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: 11564
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: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.362e1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.09e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.073847e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 10304
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.185e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.172e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.92e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 2.073309e6

QD
type: SiteQuality
SIO_000300: 1.148e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10286
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: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.827040194884288e-4
allele num: 16420
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.071731e6

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
num of homozygotes: 0

Other
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allele num: 904
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511715797430083e-5
allele num: 66150
num of homozygotes: 0

Latino
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South Asian
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African
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Other
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East Asian
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allele frequency: 0.0e0
allele num: 8642
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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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bin: 8.25e1
variant carriers: 0

South Asian
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num of homozygotes: 0

Latino
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.024803387779794e-5
allele num: 66120
num of homozygotes: 0

African
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Other
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East Asian
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 2.065994e6

GenotypeQuality
all individuals: 8700
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8948
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2869
bin: 7.25e1
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: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 1.515335192144502e-5
allele num: 65992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.061884e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

QD
type: SiteQuality
SIO_000300: 1.782e1

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.24331717021012e-4
allele num: 16086
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522672594938636e-5
allele num: 65674
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: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 5.97e0

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

DP
type: SiteQuality
SIO_000300: 2.050867e6

QD
type: SiteQuality
SIO_000300: 1.296e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQ
type: SiteQuality
SIO_000300: 5.773e1

GenotypeQuality
all individuals: 8698
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8864
bin: 6.75e1
variant carriers: 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: 894
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
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: 16004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047665488236011e-5
allele num: 65624
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.048286e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

FS
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.468e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.396e0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3943
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.467406380027739e-4
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65436
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: 8634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15830
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 9.047000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

VQSLOD
type: SiteQuality
SIO_000300: -5.857e-1

DP
type: SiteQuality
SIO_000300: 2.041488e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.453e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

GenotypeQuality
all individuals: 2730
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3937
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
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: 10052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65330
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.390593047034765e-5
allele num: 15648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.64763e2

VQSLOD
type: SiteQuality
SIO_000300: -1.242e2

MQ
type: SiteQuality
SIO_000300: 5.759e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.85e-1

DP
type: SiteQuality
SIO_000300: 2.03675e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.487e0

QD
type: SiteQuality
SIO_000300: 6.2e-1

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3933
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2730
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65108
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.535093451836362e-5
allele num: 15302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
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: 8634
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.027279e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.078e0

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 1.796e0

QD
type: SiteQuality
SIO_000300: 6.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.469e0

GenotypeQuality
all individuals: 415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4784
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2797
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63798
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13316
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.659832246039142e-4
allele num: 8584
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.193e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.975091e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.985e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573217544522056e-5
allele num: 63564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
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: 12908
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.321e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

FS
type: SiteQuality
SIO_000300: 2.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.968556e6

VQSLOD
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

GenotypeQuality
all individuals: 2789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8767
bin: 9.75e1
variant carriers: 560

GenotypeQuality
all individuals: 1094
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 8.25e1
variant carriers: 2

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

East Asian
type: Population
allele count: 510
allele frequency: 5.956552207428171e-2
allele num: 8562
num of homozygotes: 13

Latino
type: Population
allele count: 7
allele frequency: 6.11674239776302e-4
allele num: 11444
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 6.009615384615385e-3
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.11946446961895e-4
allele num: 9710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.785847241063823e-4
allele num: 63394
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.902949571836346e-3
allele num: 12612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

QD
type: SiteQuality
SIO_000300: 1.349e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

DP
type: SiteQuality
SIO_000300: 1.976578e6

FS
type: SiteQuality
SIO_000300: 1.858e0

GenotypeQuality
all individuals: 1104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24252
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8257
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585841606140379e-5
allele num: 63058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.837e1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

DP
type: SiteQuality
SIO_000300: 1.938133e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.074e1

FS
type: SiteQuality
SIO_000300: 4.553e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

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

GenotypeQuality
all individuals: 2801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8255
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3927
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62912
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.76731544800982e-5
allele num: 11406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11786
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.835e0

FS
type: SiteQuality
SIO_000300: 1.672e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.934601e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

QD
type: SiteQuality
SIO_000300: 1.098e1

VQSLOD
type: SiteQuality
SIO_000300: 8.22e-1

GenotypeQuality
all individuals: 24022
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8255
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.773469029654326e-5
allele num: 11398
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62564
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

DP
type: SiteQuality
SIO_000300: 1.927203e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.099e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 1.219e1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.46e-1