4-436421-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436421
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436421
    reference: chr 4
allele count: 5
allele frequency: 4.140855335078013e-5
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1711T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15659T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1799T>C
  hgvsp: ENSP00000340524.5:p.Leu600Pro
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15513T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5121T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6753T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1835T>C
  hgvsp: ENSP00000428878.1:p.Leu612Pro
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5121T>C
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu612Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

4-436422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436422
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436422
    reference: chr 4
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6754C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1710C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1798C>T
  hgvsp: ENSP00000340524.5:p.Leu600Phe
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15660C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5122C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1834C>T
  hgvsp: ENSP00000428878.1:p.Leu612Phe
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5122C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15514C>T
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu612Phe
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

4-436422-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436422
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436422
    reference: chr 4
allele count: 22
allele frequency: 1.821825469120058e-4
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5122C>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15660C>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1834C>A
  hgvsp: ENSP00000428878.1:p.Leu612Ile
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1710C>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1798C>A
  hgvsp: ENSP00000340524.5:p.Leu600Ile
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15514C>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5122C>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6754C>A
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu612Ile
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

4-436425-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436425
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436425
    reference: chr 4
allele count: 22
allele frequency: 1.821825469120058e-4
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5125A>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6757A>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15517A>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1707A>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1795A>C
  hgvsp: ENSP00000340524.5:p.Lys599Gln
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15663A>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1831A>C
  hgvsp: ENSP00000428878.1:p.Lys611Gln
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5125A>C
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 18950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys611Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/4-436426-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436426
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436426
    reference: chr 4
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1706G>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5126G>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5126G>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1794G>T
  hgvsp: ENSP00000340524.5:p.Glu598Asp
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15518G>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1830G>T
  hgvsp: ENSP00000428878.1:p.Glu610Asp
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15664G>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6758G>T
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu610Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

4-436426-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436426
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436426
    reference: chr 4
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15518G>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6758G>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1794G>C
  hgvsp: ENSP00000340524.5:p.Glu598Asp
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5126G>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15664G>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5126G>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1830G>C
  hgvsp: ENSP00000428878.1:p.Glu610Asp
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1706G>C
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu610Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/4-436432-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436432
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436432
    reference: chr 4
allele count: 7
allele frequency: 5.79652539706199e-5
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15524T>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6764T>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5132T>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5132T>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1788T>G
  hgvsp: ENST00000338977.5:c.1788T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1824T>G
  hgvsp: ENST00000511833.2:c.1824T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15670T>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1700T>G
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr608Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

4-436433-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436433
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436433
    reference: chr 4
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1699C>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6765C>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5133C>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1787C>A
  hgvsp: ENSP00000340524.5:p.Thr596Asn
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1823C>A
  hgvsp: ENSP00000428878.1:p.Thr608Asn
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15525C>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5133C>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15671C>A
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr608Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

4-436436-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436436
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436436
    reference: chr 4
allele count: 10
allele frequency: 8.281024859636629e-5
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15674A>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1820A>T
  hgvsp: ENSP00000428878.1:p.His607Leu
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5136A>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6768A>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1784A>T
  hgvsp: ENSP00000340524.5:p.His595Leu
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15528A>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5136A>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1696A>T
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His607Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-436445-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436445
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436445
    reference: chr 4
allele count: 10
allele frequency: 8.281024859636629e-5
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6777A>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5145A>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1775A>C
  hgvsp: ENSP00000340524.5:p.Lys592Thr
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15537A>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1687A>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5145A>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1811A>C
  hgvsp: ENSP00000428878.1:p.Lys604Thr
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15683A>C
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6393
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys604Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

4-436445-TTGTGTTGATTCAGGTCTGTGTACCGTCCAAAGGCTTTGCCACACTCTTCACATTTGTAAGGTTTCTCTCCAGTATGAATTCTCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436445
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436361
    reference: chr 4
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsp: ENSP00000340524.5:p.Arg564_His591del
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsp: ENSP00000428878.1:p.Arg576_His603del
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg576_His603del
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: TTGTGTTGATTCAGGTCTGTGTACCGTCCAAAGGCTTTGCCACACTCTTCACATTTGTAAGGTTTCTCTCCAGTATGAATTCTCC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

4-436445-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436445
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436445
    reference: chr 4
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5145A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6777A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1775A>G
  hgvsp: ENSP00000340524.5:p.Lys592Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1811A>G
  hgvsp: ENSP00000428878.1:p.Lys604Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15537A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1687A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15683A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5145A>G
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 18948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys604Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

4-436447-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436447
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436447
    reference: chr 4
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1685C>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1809C>G
  hgvsp: ENSP00000428878.1:p.His603Gln
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15685C>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5147C>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6779C>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1773C>G
  hgvsp: ENSP00000340524.5:p.His591Gln
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5147C>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15539C>G
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His603Gln
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

4-436452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436452
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436452
    reference: chr 4
allele count: 2
allele frequency: 1.656122685568547e-5
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15544C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1768C>T
  hgvsp: ENSP00000340524.5:p.Gln590Ter
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15690C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1804C>T
  hgvsp: ENSP00000428878.1:p.Gln602Ter
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5152C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6784C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1680C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5152C>T
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln602Ter
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

4-436454-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436454
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436454
    reference: chr 4
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1678A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6786A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1802A>G
  hgvsp: ENSP00000428878.1:p.Asn601Ser
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5154A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1766A>G
  hgvsp: ENSP00000340524.5:p.Asn589Ser
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15546A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5154A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15692A>G
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn601Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

4-436457-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436457
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436457
    reference: chr 4
allele count: 3
allele frequency: 2.484307457890989e-5
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1799T>C
  hgvsp: ENSP00000428878.1:p.Leu600Pro
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6789T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1675T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1763T>C
  hgvsp: ENSP00000340524.5:p.Leu588Pro
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15549T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5157T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5157T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15695T>C
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu600Pro
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

4-436460-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436460
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436460
    reference: chr 4
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5160A>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15552A>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5160A>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1672A>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6792A>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1796A>T
  hgvsp: ENSP00000428878.1:p.Asp599Val
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15698A>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1760A>T
  hgvsp: ENSP00000340524.5:p.Asp587Val
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp599Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-436468-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436468
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436468
    reference: chr 4
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6800G>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15560G>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1752G>T
  hgvsp: ENST00000338977.5:c.1752G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15706G>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5168G>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1788G>T
  hgvsp: ENST00000511833.2:c.1788G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1664G>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5168G>T
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg596Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

4-436468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436468
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436468
    reference: chr 4
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15706G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5168G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1752G>A
  hgvsp: ENST00000338977.5:c.1752G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1788G>A
  hgvsp: ENST00000511833.2:c.1788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1664G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5168G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15560G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6800G>A
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6393
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg596Arg
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

4-436469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436469
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436469
    reference: chr 4
allele count: 27
allele frequency: 2.23587671210189e-4
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1663G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15561G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1787G>A
  hgvsp: ENSP00000428878.1:p.Arg596Gln
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6801G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5169G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15707G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1751G>A
  hgvsp: ENSP00000340524.5:p.Arg584Gln
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5169G>A
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg596Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

4-436470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436470
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436470
    reference: chr 4
allele count: 19
allele frequency: 1.573707489191114e-4
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15708C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5170C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1662C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6802C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1750C>T
  hgvsp: ENSP00000340524.5:p.Arg584Trp
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5170C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15562C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1786C>T
  hgvsp: ENSP00000428878.1:p.Arg596Trp
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg596Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

4-436475-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436475
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436475
    reference: chr 4
allele count: 5
allele frequency: 4.140306713921367e-5
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15567T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1657T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6807T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15713T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1781T>C
  hgvsp: ENSP00000428878.1:p.Phe594Ser
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5175T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1745T>C
  hgvsp: ENSP00000340524.5:p.Phe582Ser
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5175T>C
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Phe594Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-436481-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436481
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436481
    reference: chr 4
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5181A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1775A>G
  hgvsp: ENSP00000428878.1:p.Lys592Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15719A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6813A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1739A>G
  hgvsp: ENSP00000340524.5:p.Lys580Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1651A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15573A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5181A>G
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys592Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-436484-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436484
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436482
    reference: chr 4
allele count: 10
allele frequency: 8.280613427842735e-5
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15578_199-15577delTG
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5186_199-5185delTG
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6818_246-6817delTG
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1734_1735delTG
  hgvsp: ENSP00000340524.5:p.Cys578TrpfsTer26
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5186_131-5185delTG
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1770_1771delTG
  hgvsp: ENSP00000428878.1:p.Cys590TrpfsTer26
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15724_277-15723delTG
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1646_220+1647delTG
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys590TrpfsTer26
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: CCA
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

4-436485-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436485
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436485
    reference: chr 4
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1771G>C
  hgvsp: ENSP00000428878.1:p.Gly591Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1735G>C
  hgvsp: ENSP00000340524.5:p.Gly579Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5185G>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5185G>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6817G>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1647G>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15723G>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15577G>C
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly591Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

4-436487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436487
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436487
    reference: chr 4
allele count: 6
allele frequency: 4.969355640218652e-5
allele num: 120740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1733G>A
  hgvsp: ENSP00000340524.5:p.Cys578Tyr
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1769G>A
  hgvsp: ENSP00000428878.1:p.Cys590Tyr
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1645G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5187G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5187G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6819G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15579G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15725G>A
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys590Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

4-436487-CACTCTTCACATTTGTAAGGTTTCTCTCCAGTAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436487
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436454
    reference: chr 4
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His579_Cys590delinsArg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: CACTCTTCACATTTGTAAGGTTTCTCTCCAGTAT
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

4-436496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436496
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436496
    reference: chr 4
allele count: 2
allele frequency: 1.656150113446283e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6828G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15734G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1636G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1760G>A
  hgvsp: ENSP00000428878.1:p.Cys587Tyr
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15588G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1724G>A
  hgvsp: ENSP00000340524.5:p.Cys575Tyr
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5196G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5196G>A
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys587Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

4-436500-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436500
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436500
    reference: chr 4
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5200A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15738A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1756A>G
  hgvsp: ENSP00000428878.1:p.Lys586Glu
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5200A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1632A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6832A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1720A>G
  hgvsp: ENSP00000340524.5:p.Lys574Glu
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15592A>G
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys586Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

4-436507-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436507
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436507
    reference: chr 4
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1713A>T
  hgvsp: ENSP00000340524.5:p.Lys571Asn
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15745A>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5207A>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15599A>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6839A>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1625A>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1749A>T
  hgvsp: ENSP00000428878.1:p.Lys583Asn
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5207A>T
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys583Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

4-436516-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436516
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436516
    reference: chr 4
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5216T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15754T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1740T>C
  hgvsp: ENST00000511833.2:c.1740T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6848T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1704T>C
  hgvsp: ENST00000338977.5:c.1704T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15608T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1616T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5216T>C
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6399
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr580Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

4-436520-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436520
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436520
    reference: chr 4
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5220A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1612A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15612A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5220A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1700A>G
  hgvsp: ENSP00000340524.5:p.His567Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6852A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1736A>G
  hgvsp: ENSP00000428878.1:p.His579Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15758A>G
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His579Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

4-436522-AATTCTCCTATGTACATAAAGGTTTGCGGACTGTCTAAAGGTTTTGCCACAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436522
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436471
    reference: chr 4
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu561_Ile578delinsAsp
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: AATTCTCCTATGTACATAAAGGTTTGCGGACTGTCTAAAGGTTTTGCCACAT
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

4-436523-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436523
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436523
    reference: chr 4
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1733T>A
  hgvsp: ENSP00000428878.1:p.Ile578Asn
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1697T>A
  hgvsp: ENSP00000340524.5:p.Ile566Asn
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5223T>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15761T>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5223T>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6855T>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15615T>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1609T>A
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile578Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

4-436526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436526
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436526
    reference: chr 4
allele count: 2
allele frequency: 1.656259834042764e-5
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6858G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1730G>A
  hgvsp: ENSP00000428878.1:p.Arg577Lys
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15618G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1694G>A
  hgvsp: ENSP00000340524.5:p.Arg565Lys
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15764G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1606G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5226G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5226G>A
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 18973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6393
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Arg577Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

4-436527-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436527
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436527
    reference: chr 4
allele count: 3
allele frequency: 2.484225170169424e-5
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5227A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1729A>G
  hgvsp: ENSP00000428878.1:p.Arg577Gly
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15619A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5227A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6859A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1693A>G
  hgvsp: ENSP00000340524.5:p.Arg565Gly
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15765A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1605A>G
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg577Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

4-436529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436529
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436529
    reference: chr 4
allele count: 2
allele frequency: 1.656314699792961e-5
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15767G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1727G>A
  hgvsp: ENSP00000428878.1:p.Arg576Lys
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5229G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6861G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5229G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1691G>A
  hgvsp: ENSP00000340524.5:p.Arg564Lys
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1603G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15621G>A
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg576Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

4-436531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436531
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436531
    reference: chr 4
allele count: 2
allele frequency: 1.656150113446283e-5
allele num: 120762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1601T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15769T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6863T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5231T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15623T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1725T>C
  hgvsp: ENST00000511833.2:c.1725T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1689T>C
  hgvsp: ENST00000338977.5:c.1689T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5231T>C
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His575His
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

4-436532-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436532
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436532
    reference: chr 4
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1600A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1688A>G
  hgvsp: ENSP00000340524.5:p.His563Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5232A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15624A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6864A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1724A>G
  hgvsp: ENSP00000428878.1:p.His575Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15770A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5232A>G
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His575Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

4-436534-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436534
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436534
    reference: chr 4
allele count: 90
allele frequency: 7.452798940046373e-4
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1722A>G
  hgvsp: ENST00000511833.2:c.1722A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1686A>G
  hgvsp: ENST00000338977.5:c.1686A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15626A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5234A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5234A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6866A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1598A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15772A>G
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18957
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 31327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val574Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-436535-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436535
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436535
    reference: chr 4
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1721T>A
  hgvsp: ENSP00000428878.1:p.Val574Glu
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15627T>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1685T>A
  hgvsp: ENSP00000340524.5:p.Val562Glu
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5235T>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15773T>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6867T>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1597T>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5235T>A
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45489
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val574Glu
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

4-436535-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436535
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436535
    reference: chr 4
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6867T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1685T>C
  hgvsp: ENSP00000340524.5:p.Val562Ala
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15627T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5235T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1721T>C
  hgvsp: ENSP00000428878.1:p.Val574Ala
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15773T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5235T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1597T>C
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val574Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

4-436536-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436536
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436536
    reference: chr 4
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1596G>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1684G>C
  hgvsp: ENSP00000340524.5:p.Val562Leu
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6868G>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15628G>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5236G>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1720G>C
  hgvsp: ENSP00000428878.1:p.Val574Leu
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5236G>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15774G>C
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val574Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

4-436537-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436537
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436537
    reference: chr 4
allele count: 6
allele frequency: 4.968450340338848e-5
allele num: 120762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5237T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1719T>C
  hgvsp: ENST00000511833.2:c.1719T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5237T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1683T>C
  hgvsp: ENST00000338977.5:c.1683T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6869T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15629T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1595T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15775T>C
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr573Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

4-436539-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436539
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436539
    reference: chr 4
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1681T>A
  hgvsp: ENSP00000340524.5:p.Tyr561Asn
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1593T>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6871T>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1717T>A
  hgvsp: ENSP00000428878.1:p.Tyr573Asn
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5239T>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15777T>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5239T>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15631T>A
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr573Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-436540-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436540
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436540
    reference: chr 4
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5240T>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5240T>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15778T>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1716T>G
  hgvsp: ENST00000511833.2:c.1716T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1680T>G
  hgvsp: ENST00000338977.5:c.1680T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15632T>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1592T>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6872T>G
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu572Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-436543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436543
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436543
    reference: chr 4
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1713C>T
  hgvsp: ENST00000511833.2:c.1713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1589C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5243C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15781C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6875C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1677C>T
  hgvsp: ENST00000338977.5:c.1677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15635C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5243C>T
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn571Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

4-436544-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436544
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436544
    reference: chr 4
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15782A>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5244A>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1588A>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1676A>C
  hgvsp: ENSP00000340524.5:p.Asn559Thr
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1712A>C
  hgvsp: ENSP00000428878.1:p.Asn571Thr
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15636A>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5244A>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6876A>C
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn571Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

4-436544-TTTGCGGACTGTCTAAAGGTTTTGCCACATTCTTCACATGTGTAGGGTTTCTCTCCAGTATGAATTCTCCTATGTACATAAAGGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436544
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436460
    reference: chr 4
allele count: 5
allele frequency: 4.140786749482401e-5
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsp: ENSP00000340524.5:p.Ile531_Ala558del
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsp: ENSP00000428878.1:p.Ile543_Ala570del
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18995
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile543_Ala570del
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: TTTGCGGACTGTCTAAAGGTTTTGCCACATTCTTCACATGTGTAGGGTTTCTCTCCAGTATGAATTCTCCTATGTACATAAAGGA
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

4-436545-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436545
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436545
    reference: chr 4
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1675A>G
  hgvsp: ENSP00000340524.5:p.Asn559Asp
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6877A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5245A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5245A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1587A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1711A>G
  hgvsp: ENSP00000428878.1:p.Asn571Asp
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15637A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15783A>G
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6393
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn571Asp
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

4-436548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436548
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436548
    reference: chr 4
allele count: 6
allele frequency: 4.969602597445624e-5
allele num: 120734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1584G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1672G>A
  hgvsp: ENSP00000340524.5:p.Ala558Thr
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5248G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15640G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15786G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5248G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1708G>A
  hgvsp: ENSP00000428878.1:p.Ala570Thr
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6880G>A
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala570Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

4-436549-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436549
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436549
    reference: chr 4
allele count: 12
allele frequency: 9.938052804187233e-5
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15787C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15641C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5249C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1707C>T
  hgvsp: ENST00000511833.2:c.1707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6881C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1671C>T
  hgvsp: ENST00000338977.5:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1583C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5249C>T
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser569Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

4-436550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436550
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436550
    reference: chr 4
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6882C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1706C>T
  hgvsp: ENSP00000428878.1:p.Ser569Phe
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1582C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1670C>T
  hgvsp: ENSP00000340524.5:p.Ser557Phe
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15642C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5250C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5250C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15788C>T
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  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: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser569Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

4-436550-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436550
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436550
    reference: chr 4
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1670C>A
  hgvsp: ENSP00000340524.5:p.Ser557Tyr
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1582C>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6882C>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1706C>A
  hgvsp: ENSP00000428878.1:p.Ser569Tyr
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15788C>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5250C>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5250C>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15642C>A
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser569Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

4-436553-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436553
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436553
    reference: chr 4
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1703A>G
  hgvsp: ENSP00000428878.1:p.Gln568Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5253A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15791A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5253A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1579A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6885A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15645A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1667A>G
  hgvsp: ENSP00000340524.5:p.Gln556Arg
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln568Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

4-436554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436554
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436554
    reference: chr 4
allele count: 2
allele frequency: 1.656424442199069e-5
allele num: 120742
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1702C>T
  hgvsp: ENSP00000428878.1:p.Gln568Ter
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5254C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15792C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1578C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5254C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6886C>T
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15646C>T
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1666C>T
  hgvsp: ENSP00000340524.5:p.Gln556Ter
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln568Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-436555-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436555
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436555
    reference: chr 4
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5255A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5255A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1701A>G
  hgvsp: ENST00000511833.2:c.1701A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1665A>G
  hgvsp: ENST00000338977.5:c.1665A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6887A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15647A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15793A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1577A>G
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg567Arg
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

4-436557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436557
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436557
    reference: chr 4
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6889A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1699A>G
  hgvsp: ENSP00000428878.1:p.Arg567Gly
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15795A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1663A>G
  hgvsp: ENSP00000340524.5:p.Arg555Gly
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5257A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5257A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15649A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1575A>G
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg567Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

4-436562-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436562
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436562
    reference: chr 4
allele count: 2
allele frequency: 1.656397005234214e-5
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15654C>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5262C>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5262C>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1570C>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1658C>A
  hgvsp: ENSP00000340524.5:p.Thr553Asn
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1694C>A
  hgvsp: ENSP00000428878.1:p.Thr565Asn
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6894C>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15800C>A
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr565Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

4-436563-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436563
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436563
    reference: chr 4
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15655A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5263A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1693A>G
  hgvsp: ENSP00000428878.1:p.Thr565Ala
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6895A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1657A>G
  hgvsp: ENSP00000340524.5:p.Thr553Ala
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1569A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15801A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5263A>G
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr565Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-436563-TTTTGCCACATTCTTCACATGTGTAGGGTTTCTCTCCAGTATGAATTCTCCTATGTACATAAAGGATTGCGGACTGTCTAAAGGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436563
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436479
    reference: chr 4
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsp: ENSP00000428878.1:p.Ala537_Lys564del
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsp: ENSP00000340524.5:p.Ala525_Lys552del
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 31314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala537_Lys564del
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: TTTTGCCACATTCTTCACATGTGTAGGGTTTCTCTCCAGTATGAATTCTCCTATGTACATAAAGGATTGCGGACTGTCTAAAGGC
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

4-436569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436569
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436569
    reference: chr 4
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1687G>A
  hgvsp: ENSP00000428878.1:p.Gly563Ser
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1563G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5269G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6901G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1651G>A
  hgvsp: ENSP00000340524.5:p.Gly551Ser
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5269G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15807G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15661G>A
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly563Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

4-436570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436570
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436570
    reference: chr 4
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5270T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1650T>C
  hgvsp: ENST00000338977.5:c.1650T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1562T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15808T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15662T>C
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6902T>C
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1686T>C
  hgvsp: ENST00000511833.2:c.1686T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5270T>C
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys562Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

4-436577-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436577
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436577
    reference: chr 4
allele count: 3
allele frequency: 2.484842460987973e-5
allele num: 120732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1555A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1679A>G
  hgvsp: ENSP00000428878.1:p.Glu560Gly
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6909A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5277A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15815A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15669A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5277A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1643A>G
  hgvsp: ENSP00000340524.5:p.Glu548Gly
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu560Gly
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

4-436580-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436580
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436578
    reference: chr 4
allele count: 2
allele frequency: 1.656561640658649e-5
allele num: 120732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1638_1639delAT
  hgvsp: ENSP00000340524.5:p.Cys547Ter
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1550_220+1551delAT
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5282_199-5281delAT
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5282_131-5281delAT
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1674_1675delAT
  hgvsp: ENSP00000428878.1:p.Cys559Ter
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15820_277-15819delAT
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6914_246-6913delAT
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15674_199-15673delAT
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys559Ter
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: CAT
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

4-436582-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436582
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436582
    reference: chr 4
allele count: 2
allele frequency: 1.656643970644269e-5
allele num: 120726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5282A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1674A>G
  hgvsp: ENST00000511833.2:c.1674A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6914A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15674A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1638A>G
  hgvsp: ENST00000338977.5:c.1638A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15820A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5282A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1550A>G
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr558Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

4-436583-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436583
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436583
    reference: chr 4
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1673C>G
  hgvsp: ENSP00000428878.1:p.Thr558Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5283C>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1637C>G
  hgvsp: ENSP00000340524.5:p.Thr546Arg
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1549C>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15821C>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5283C>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6915C>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15675C>G
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr558Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

4-436588-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436588
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436588
    reference: chr 4
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5288C>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15680C>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1668C>G
  hgvsp: ENST00000511833.2:c.1668C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6920C>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1632C>G
  hgvsp: ENST00000338977.5:c.1632C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5288C>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15826C>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1544C>G
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro556Pro
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

4-436591-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436591
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436591
    reference: chr 4
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5291A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6923A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15683A>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5291A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1665A>G
  hgvsp: ENST00000511833.2:c.1665A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1629A>G
  hgvsp: ENST00000338977.5:c.1629A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1541A>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15829A>G
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys555Lys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

4-436598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436598
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436598
    reference: chr 4
allele count: 10
allele frequency: 8.284455048546907e-5
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6930G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1622G>A
  hgvsp: ENSP00000340524.5:p.Gly541Glu
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5298G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1534G>A
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15836G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15690G>A
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1658G>A
  hgvsp: ENSP00000428878.1:p.Gly553Glu
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5298G>A
  variant of: http://identifiers.org/hgnc/31
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6364
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly553Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

4-436601-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436601
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 436601
    reference: chr 4
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000340524
  ensembl transcript: ENST00000338977
  gene symbol: ZNF721
  hgvsc: ENST00000338977.5:c.1619C>G
  hgvsp: ENSP00000340524.5:p.Thr540Ser
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000428878
  ensembl transcript: ENST00000511833
  gene symbol: ZNF721
  hgvsc: ENST00000511833.2:c.1655C>G
  hgvsp: ENSP00000428878.1:p.Thr552Ser
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000514396
  gene symbol: ABCA11P
  hgvsc: ENST00000514396.1:n.199-5301C>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000507854
  gene symbol: ABCA11P
  hgvsc: ENST00000507854.1:n.199-15693C>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251595
  ensembl transcript: ENST00000451020
  gene symbol: ABCA11P
  hgvsc: ENST00000451020.2:n.277-15839C>G
  variant of: http://identifiers.org/hgnc/31
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl transcript: ENST00000507078
  gene symbol: ZNF721
  hgvsc: ENST00000507078.1:n.246-6933C>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000430163
  ensembl transcript: ENST00000515578
  gene symbol: ZNF721
  hgvsc: ENST00000515578.1:c.131-5301C>G
  variant of: http://identifiers.org/hgnc/29425
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182903
  ensembl protein: ENSP00000423586
  ensembl transcript: ENST00000506646
  gene symbol: ZNF721
  hgvsc: ENST00000506646.1:c.220+1531C>G
  variant of: http://identifiers.org/hgnc/29425
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr552Ser
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1662
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.493780162465154e-5
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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

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

FS
type: SiteQuality
SIO_000300: 2.831e0

VQSLOD
type: SiteQuality
SIO_000300: -6.745e0

QD
type: SiteQuality
SIO_000300: 4.24e0

MQRankSum
type: SiteQuality
SIO_000300: -6.106e0

DP
type: SiteQuality
SIO_000300: 1.65316e6

MQ
type: SiteQuality
SIO_000300: 5.733e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.639e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
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SIO_000300: 3.67e0

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

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

South Asian
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allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.048e0

BaseQRankSum
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SIO_000300: -2.716e0

ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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SIO_000300: -6.497e0

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 22

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

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

African
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allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 18
allele frequency: 2.69735659054127e-4
allele num: 66732
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.251e0

DP
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.048e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 22

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

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

Latino
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allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.69735659054127e-4
allele num: 66732
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.767e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.722e0

MQRankSum
type: SiteQuality
SIO_000300: -5.927e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.719e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

FS
type: SiteQuality
SIO_000300: 1.051e1

VQSLOD
type: SiteQuality
SIO_000300: -7.16e0

DP
type: SiteQuality
SIO_000300: 1.651832e6

QD
type: SiteQuality
SIO_000300: 3.01e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.727e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

DP
type: SiteQuality
SIO_000300: 1.650249e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 1.126e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.727e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.126e0

QD
type: SiteQuality
SIO_000300: 1.527e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239854633555421e-4
allele num: 16510
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

MQ
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InbreedingCoeff
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MQRankSum
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

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

East Asian
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allele num: 8626
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.198825151351675e-4
allele num: 66732
num of homozygotes: 0

European (Finnish)
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allele num: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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DP
type: SiteQuality
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ClippingRankSum
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MQRankSum
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FS
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3264
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.198825151351675e-4
allele num: 66732
num of homozygotes: 0

InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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South Asian
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allele num: 16510
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Latino
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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QD
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FS
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MQ
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ReadPosRankSum
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DP
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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African
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Other
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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QD
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FS
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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.996883241428914e-5
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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MQ
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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East Asian
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MQ
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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allele num: 66734
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Latino
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Other
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DP
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FS
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MQ
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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African
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European (Finnish)
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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MQ
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e-1

FS
type: SiteQuality
SIO_000300: 2.807e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 1.649795e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.007e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3286
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.019991840065279e-4
allele num: 9804
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 2.997062878379188e-4
allele num: 66732
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: 8626
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.652866e6

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.823e0

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

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

GenotypeQuality
all individuals: 45502
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3270
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 6393
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.948499655265446e-4
allele num: 66718
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.458412588621823e-4
allele num: 11566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.412e1

DP
type: SiteQuality
SIO_000300: 1.652408e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 394
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variant carriers: 0

GenotypeQuality
all individuals: 1901
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.75e1
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: 8626
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993766482857828e-5
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.019991840065279e-4
allele num: 9804
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.650449e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.517e1

FS
type: SiteQuality
SIO_000300: 1.846e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e0

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

GenotypeQuality
all individuals: 1903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 395
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variant carriers: 0

GenotypeQuality
all individuals: 398
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variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.504e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.61e0

QD
type: SiteQuality
SIO_000300: 1.191e1

DP
type: SiteQuality
SIO_000300: 1.649293e6

FS
type: SiteQuality
SIO_000300: 5.3036e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.478e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e0

MQ
type: SiteQuality
SIO_000300: 5.203e1

GenotypeQuality
all individuals: 834
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45512
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 398
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variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3269
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498441620714457e-4
allele num: 66736
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.639e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.91e-1

DP
type: SiteQuality
SIO_000300: 1.650795e6

FS
type: SiteQuality
SIO_000300: 1.158e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.64e-1

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45510
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
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: 0
allele frequency: 0.0e0
allele num: 8626
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: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.481e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

DP
type: SiteQuality
SIO_000300: 1.64916e6

FS
type: SiteQuality
SIO_000300: 9.708e0

VQSLOD
type: SiteQuality
SIO_000300: -7.905e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.759e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

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

GenotypeQuality
all individuals: 3264
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 6402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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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: 1659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494678778067572e-5
allele num: 66714
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.019991840065279e-4
allele num: 9804
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

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.271e0

DP
type: SiteQuality
SIO_000300: 1.65165e6

FS
type: SiteQuality
SIO_000300: 2.501e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.026e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6402
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 45505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3264
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 9804
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

MQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.271e0

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

FS
type: SiteQuality
SIO_000300: 2.501e0

QD
type: SiteQuality
SIO_000300: 1.026e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

DP
type: SiteQuality
SIO_000300: 1.65165e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 836
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45511
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 66732
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.424e0

DP
type: SiteQuality
SIO_000300: 1.649896e6

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: -2.5e-1

FS
type: SiteQuality
SIO_000300: 3.577e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.324e1

MQ
type: SiteQuality
SIO_000300: 5.886e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
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 frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.607e-1

MQRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 1.649637e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.892e1

VQSLOD
type: SiteQuality
SIO_000300: -8.168e-1

FS
type: SiteQuality
SIO_000300: 7.066e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.386e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

DP
type: SiteQuality
SIO_000300: 1.648621e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.019575856443719e-4
allele num: 9808
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: 8628
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.59e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

DP
type: SiteQuality
SIO_000300: 1.647716e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
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: 900
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9806
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: 5.919e1

FS
type: SiteQuality
SIO_000300: 9.897e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.194e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.647852e6

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.47e0

FS
type: SiteQuality
SIO_000300: 3.4823e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.459e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.234e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.647461e6

ClippingRankSum
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SIO_000300: -1.992e0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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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

African
type: Population
allele count: 2
allele frequency: 2.039567611666327e-4
allele num: 9806
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

South Asian
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allele num: 16510
num of homozygotes: 0

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

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

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

East Asian
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MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
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QD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (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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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.647717e6

VQSLOD
type: SiteQuality
SIO_000300: -9.023999999999999e0

FS
type: SiteQuality
SIO_000300: 1.9248e1

MQ
type: SiteQuality
SIO_000300: 5.668e1

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

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

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45494
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 143
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6397
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3254
bin: 9.75e1
variant carriers: 1

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: 9808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.668e1

MQRankSum
type: SiteQuality
SIO_000300: -3.664e0

DP
type: SiteQuality
SIO_000300: 1.647409e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.85e0

FS
type: SiteQuality
SIO_000300: 7.739e0

VQSLOD
type: SiteQuality
SIO_000300: -7.952e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.451e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e0

QD
type: SiteQuality
SIO_000300: 1.28e0

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

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

GenotypeQuality
all individuals: 3257
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6398
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
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: 0
allele frequency: 0.0e0
allele num: 66732
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: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.815e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 5.05e-1

DP
type: SiteQuality
SIO_000300: 1.647483e6

MQ
type: SiteQuality
SIO_000300: 5.782e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.392e0

QD
type: SiteQuality
SIO_000300: 1.153e1

GenotypeQuality
all individuals: 6382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3340
bin: 9.75e1
variant carriers: 90

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

GenotypeQuality
all individuals: 1654
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 78
allele frequency: 1.168889554922823e-3
allele num: 66730
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: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.039151712887439e-4
allele num: 9808
num of homozygotes: 0

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

Latino
type: Population
allele count: 8
allele frequency: 6.914433880726015e-4
allele num: 11570
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.837e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

DP
type: SiteQuality
SIO_000300: 1.656257e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.979e-1

QD
type: SiteQuality
SIO_000300: 1.537e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e0

GenotypeQuality
all individuals: 3257
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1902
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6393
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
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: 66722
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.101e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.64e0

MQ
type: SiteQuality
SIO_000300: 5.425e1

DP
type: SiteQuality
SIO_000300: 1.647709e6

FS
type: SiteQuality
SIO_000300: 6.0715e1

QD
type: SiteQuality
SIO_000300: 9.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

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

GenotypeQuality
all individuals: 1902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45489
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3257
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
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: 8626
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.0715e1

VQSLOD
type: SiteQuality
SIO_000300: -2.101e1

QD
type: SiteQuality
SIO_000300: 9.06e0

MQRankSum
type: SiteQuality
SIO_000300: -5.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.88e0

DP
type: SiteQuality
SIO_000300: 1.647709e6

MQ
type: SiteQuality
SIO_000300: 5.425e1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45485
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6392
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.64761e6

QD
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.023e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.16e0

FS
type: SiteQuality
SIO_000300: 6.377e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.905e0

VQSLOD
type: SiteQuality
SIO_000300: -1.026e1

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3264
bin: 9.75e1
variant carriers: 6

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

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

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

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

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

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

African
type: Population
allele count: 4
allele frequency: 4.078303425774878e-4
allele num: 9808
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.42e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

FS
type: SiteQuality
SIO_000300: 9.071999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -2.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.648254e6

QD
type: SiteQuality
SIO_000300: 1.012e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.955e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45482
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3259
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1655
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.869e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e0

MQ
type: SiteQuality
SIO_000300: 5.775e1

FS
type: SiteQuality
SIO_000300: 1.2322e1

VQSLOD
type: SiteQuality
SIO_000300: -9.234e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 1.647691e6

QD
type: SiteQuality
SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.413e0

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

GenotypeQuality
all individuals: 145
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45484
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
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: 8626
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.675e0

VQSLOD
type: SiteQuality
SIO_000300: -8.083e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

FS
type: SiteQuality
SIO_000300: 9.749000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

DP
type: SiteQuality
SIO_000300: 1.647658e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.089e0

QD
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6395
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.644e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.034e0

FS
type: SiteQuality
SIO_000300: 9.0996e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.677e0

DP
type: SiteQuality
SIO_000300: 1.647733e6

VQSLOD
type: SiteQuality
SIO_000300: -4.56e1

MQ
type: SiteQuality
SIO_000300: 5.518e1

GenotypeQuality
all individuals: 6392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3264
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45483
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.5e0

MQRankSum
type: SiteQuality
SIO_000300: -2.216e0

FS
type: SiteQuality
SIO_000300: 8.015000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.32e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.078e0

DP
type: SiteQuality
SIO_000300: 1.64889e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e0

QD
type: SiteQuality
SIO_000300: 2.5e-1

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

GenotypeQuality
all individuals: 840
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.63821892393321e-4
allele num: 8624
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.32e1

MQRankSum
type: SiteQuality
SIO_000300: -2.216e0

DP
type: SiteQuality
SIO_000300: 1.64889e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.078e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e0

VQSLOD
type: SiteQuality
SIO_000300: -6.5e0

FS
type: SiteQuality
SIO_000300: 8.015000000000001e0

QD
type: SiteQuality
SIO_000300: 2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

GenotypeQuality
all individuals: 3261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 395
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 143
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 45478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
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

MQRankSum
type: SiteQuality
SIO_000300: -4.338e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.776e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e0

VQSLOD
type: SiteQuality
SIO_000300: -1.51e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.844e0

FS
type: SiteQuality
SIO_000300: 3.5222e1

DP
type: SiteQuality
SIO_000300: 1.64746e6

QD
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 9.75e1
variant carriers: 6

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496537665997182e-5
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
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: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.1e1

VQSLOD
type: SiteQuality
SIO_000300: -1.815e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.767e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.648331e6

MQRankSum
type: SiteQuality
SIO_000300: 9.47e-1

FS
type: SiteQuality
SIO_000300: 5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.73e-1

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3272
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 395
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45478
bin: 6.25e1
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: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 5.096839959225281e-4
allele num: 9810
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.119e0

DP
type: SiteQuality
SIO_000300: 1.648252e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 5.724e1

QD
type: SiteQuality
SIO_000300: 1.368e1

VQSLOD
type: SiteQuality
SIO_000300: -2.869e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

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

GenotypeQuality
all individuals: 3266
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6392
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
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: 900
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

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

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

MQ
type: SiteQuality
SIO_000300: 5.848e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 1.647599e6

QD
type: SiteQuality
SIO_000300: 6.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.792e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.099e0

FS
type: SiteQuality
SIO_000300: 4.023e0

GenotypeQuality
all individuals: 839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
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: 900
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
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: 8620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.099e0

DP
type: SiteQuality
SIO_000300: 1.647599e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.79e-1

FS
type: SiteQuality
SIO_000300: 4.023e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.848e1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.792e0

QD
type: SiteQuality
SIO_000300: 6.92e0

GenotypeQuality
all individuals: 3265
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 139
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45471
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.647698e6

MQ
type: SiteQuality
SIO_000300: 5.865e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -1.683e0

VQSLOD
type: SiteQuality
SIO_000300: -3.451e0

FS
type: SiteQuality
SIO_000300: 9.769e0

QD
type: SiteQuality
SIO_000300: 2.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.464e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
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: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.036e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.662e0

FS
type: SiteQuality
SIO_000300: 9.644e0

MQ
type: SiteQuality
SIO_000300: 5.647e1

VQSLOD
type: SiteQuality
SIO_000300: -2.713e0

QD
type: SiteQuality
SIO_000300: 1.18e1

DP
type: SiteQuality
SIO_000300: 1.647875e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

QD
type: SiteQuality
SIO_000300: 1.044e1

VQSLOD
type: SiteQuality
SIO_000300: -1.456e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 9.116e0

MQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

DP
type: SiteQuality
SIO_000300: 1.648007e6

MQ
type: SiteQuality
SIO_000300: 5.688e1

GenotypeQuality
all individuals: 840
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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: 66716
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.647122e6

VQSLOD
type: SiteQuality
SIO_000300: -1.893e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 2.15e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 398
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variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.5e0
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: 8624
num of homozygotes: 0

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

Latino
type: Population
allele count: 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: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.724e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

FS
type: SiteQuality
SIO_000300: 5.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.638e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.629e0

DP
type: SiteQuality
SIO_000300: 1.647836e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 8620
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 2.262e1

VQSLOD
type: SiteQuality
SIO_000300: -3.476e0

DP
type: SiteQuality
SIO_000300: 1.647176e6

MQ
type: SiteQuality
SIO_000300: 5.518e1

QD
type: SiteQuality
SIO_000300: 2.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.408e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.238e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.647176e6

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 2.262e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.8e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
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: 900
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.26e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.674e1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.575e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.646482e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.103e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.569e1

FS
type: SiteQuality
SIO_000300: 7.379e0

DP
type: SiteQuality
SIO_000300: 1.646989e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 22
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
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East Asian
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allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
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African
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allele count: 0
allele frequency: 0.0e0
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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: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

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

VQSLOD
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SIO_000300: -4.428e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

MQRankSum
type: SiteQuality
SIO_000300: -6.099e0

MQ
type: SiteQuality
SIO_000300: 5.077e1

DP
type: SiteQuality
SIO_000300: 1.646821e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

VQSLOD
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.729e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.685e0

MQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

FS
type: SiteQuality
SIO_000300: 4.155e0

DP
type: SiteQuality
SIO_000300: 1.646856e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.68e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
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allele count: 0
allele frequency: 0.0e0
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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: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.643e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.403e0

FS
type: SiteQuality
SIO_000300: 5.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

DP
type: SiteQuality
SIO_000300: 1.646208e6

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

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 2.0492e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

VQSLOD
type: SiteQuality
SIO_000300: -3.925e0

DP
type: SiteQuality
SIO_000300: 1.646346e6

QD
type: SiteQuality
SIO_000300: 3.063e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-1

MQ
type: SiteQuality
SIO_000300: 5.609e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
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African
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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VQSLOD
type: SiteQuality
SIO_000300: -2.799e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 1.9286e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.057e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

DP
type: SiteQuality
SIO_000300: 1.645657e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.996641880546894e-5
allele num: 66704
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 6
allele frequency: 9.071666162685213e-4
allele num: 6614
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

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