10-50863482-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863482
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50863482
    reference: chr 10
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1473A>G
  hgvsp: ENST00000395559.2:c.1473A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1473A>G
  hgvsp: ENST00000351556.3:c.1473A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1827A>G
  hgvsp: ENST00000337653.2:c.1827A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1581A>G
  hgvsp: ENST00000395562.2:c.1581A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1473A>G
  hgvsp: ENST00000455728.2:c.1473A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1558A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1473A>G
  hgvsp: ENST00000339797.1:c.1473A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4057
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala609Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

10-50863483-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863483
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50863483
    reference: chr 10
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1559T>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1474T>A
  hgvsp: ENSP00000343486.1:p.Tyr492Asn
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1828T>A
  hgvsp: ENSP00000337103.2:p.Tyr610Asn
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1474T>A
  hgvsp: ENSP00000345878.3:p.Tyr492Asn
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1582T>A
  hgvsp: ENSP00000378929.2:p.Tyr528Asn
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1474T>A
  hgvsp: ENSP00000378926.2:p.Tyr492Asn
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1474T>A
  hgvsp: ENSP00000390521.2:p.Tyr492Asn
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr610Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

10-50863489-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863489
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50863489
    reference: chr 10
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1834G>C
  hgvsp: ENSP00000337103.2:p.Val612Leu
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1480G>C
  hgvsp: ENSP00000345878.3:p.Val494Leu
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1588G>C
  hgvsp: ENSP00000378929.2:p.Val530Leu
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1480G>C
  hgvsp: ENSP00000378926.2:p.Val494Leu
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1480G>C
  hgvsp: ENSP00000343486.1:p.Val494Leu
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1480G>C
  hgvsp: ENSP00000390521.2:p.Val494Leu
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1565G>C
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val612Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

10-50863499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863499
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50863499
    reference: chr 10
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1485+5G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1593+5G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1839+5G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1485+5G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1485+5G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1570+5G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1485+5G>A
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1839+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

10-50863499-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863499
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50863499
    reference: chr 10
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1570+5G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1485+5G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1485+5G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1485+5G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1839+5G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1485+5G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1593+5G>T
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1839+5G>T
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

10-50863503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863503
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50863503
    reference: chr 10
allele count: 7
allele frequency: 5.775672865888876e-5
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1593+9C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1485+9C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1839+9C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1485+9C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1485+9C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1570+9C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1485+9C>T
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

10-50863504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863504
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50863504
    reference: chr 10
allele count: 9
allele frequency: 7.425865113285698e-5
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1485+10G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1570+10G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1485+10G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1485+10G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1593+10G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1485+10G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1839+10G>A
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35388
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

10-50863507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863507
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50863507
    reference: chr 10
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1570+13G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1485+13G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1485+13G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1485+13G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1593+13G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1485+13G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1839+13G>A
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

10-50863520-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863520
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50863520
    reference: chr 10
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1485+26A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1485+26A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1839+26A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1570+26A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1593+26A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1485+26A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1485+26A>G
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

10-50863525-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863525
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50863525
    reference: chr 10
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1485+31G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1839+31G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1485+31G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1485+31G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1485+31G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1593+31G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1570+31G>T
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

10-50870648-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870648
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870648
    reference: chr 10
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1594-43A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1571-43A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1486-43A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1486-43A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1486-43A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1486-43A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1840-43A>G
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

10-50870655-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870655
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870655
    reference: chr 10
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1594-36C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1840-36C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1571-36C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1486-36C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1486-36C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1486-36C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1486-36C>G
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

10-50870655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870655
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870655
    reference: chr 10
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1840-36C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1486-36C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1486-36C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1571-36C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1486-36C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1594-36C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1486-36C>T
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

10-50870660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870660
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870660
    reference: chr 10
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1594-31C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1486-31C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1840-31C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1571-31C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1486-31C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1486-31C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1486-31C>T
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

10-50870667-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870667
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870667
    reference: chr 10
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1486-24T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1571-24T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1594-24T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1486-24T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1486-24T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1486-24T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1840-24T>C
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

10-50870678-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870678
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870678
    reference: chr 10
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1486-13C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1486-13C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1840-13C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1486-13C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1571-13C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1486-13C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1594-13C>G
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52436
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

10-50870678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870678
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870678
    reference: chr 10
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1840-13C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1594-13C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1486-13C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1571-13C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1486-13C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1486-13C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1486-13C>T
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

10-50870681-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870681
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870681
    reference: chr 10
allele count: 3
allele frequency: 2.472473132458627e-5
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1594-10A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1486-10A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1486-10A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1571-10A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1840-10A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1486-10A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1486-10A>G
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52437
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

10-50870686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870686
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870686
    reference: chr 10
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1486-5C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1486-5C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1486-5C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1594-5C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1571-5C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1486-5C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1840-5C>T
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1840-5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

10-50870687-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870687
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870687
    reference: chr 10
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1571-4A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1594-4A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1486-4A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1486-4A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1486-4A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1486-4A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1840-4A>G
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1840-4A>G
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

10-50870694-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870694
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870694
    reference: chr 10
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1597A>G
  hgvsp: ENSP00000378929.2:p.Ile533Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1489A>G
  hgvsp: ENSP00000378926.2:p.Ile497Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1489A>G
  hgvsp: ENSP00000390521.2:p.Ile497Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1574A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1489A>G
  hgvsp: ENSP00000343486.1:p.Ile497Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1843A>G
  hgvsp: ENSP00000337103.2:p.Ile615Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1489A>G
  hgvsp: ENSP00000345878.3:p.Ile497Val
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile615Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

10-50870704-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870704
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870704
    reference: chr 10
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1584T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1607T>C
  hgvsp: ENSP00000378929.2:p.Met536Thr
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1499T>C
  hgvsp: ENSP00000378926.2:p.Met500Thr
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1853T>C
  hgvsp: ENSP00000337103.2:p.Met618Thr
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1499T>C
  hgvsp: ENSP00000390521.2:p.Met500Thr
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1499T>C
  hgvsp: ENSP00000343486.1:p.Met500Thr
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1499T>C
  hgvsp: ENSP00000345878.3:p.Met500Thr
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52442
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met618Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

10-50870731-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870731
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870731
    reference: chr 10
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1880T>C
  hgvsp: ENSP00000337103.2:p.Leu627Pro
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1526T>C
  hgvsp: ENSP00000343486.1:p.Leu509Pro
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1634T>C
  hgvsp: ENSP00000378929.2:p.Leu545Pro
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1526T>C
  hgvsp: ENSP00000390521.2:p.Leu509Pro
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1526T>C
  hgvsp: ENSP00000378926.2:p.Leu509Pro
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1611T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1526T>C
  hgvsp: ENSP00000345878.3:p.Leu509Pro
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52440
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu627Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

10-50870732-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870732
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870732
    reference: chr 10
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1612G>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1527G>C
  hgvsp: ENST00000455728.2:c.1527G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1881G>C
  hgvsp: ENST00000337653.2:c.1881G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1527G>C
  hgvsp: ENST00000351556.3:c.1527G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1527G>C
  hgvsp: ENST00000339797.1:c.1527G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1635G>C
  hgvsp: ENST00000395562.2:c.1635G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1527G>C
  hgvsp: ENST00000395559.2:c.1527G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu627Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/10-50870733-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870733
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870733
    reference: chr 10
allele count: 26
allele frequency: 2.141609831636519e-4
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1636C>A
  hgvsp: ENST00000395562.2:c.1636C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1613C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1528C>A
  hgvsp: ENST00000339797.1:c.1528C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1882C>A
  hgvsp: ENST00000337653.2:c.1882C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1528C>A
  hgvsp: ENST00000351556.3:c.1528C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1528C>A
  hgvsp: ENST00000395559.2:c.1528C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1528C>A
  hgvsp: ENST00000455728.2:c.1528C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52442
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg628Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

10-50870733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870733
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870733
    reference: chr 10
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1636C>T
  hgvsp: ENSP00000378929.2:p.Arg546Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1528C>T
  hgvsp: ENSP00000345878.3:p.Arg510Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1528C>T
  hgvsp: ENSP00000343486.1:p.Arg510Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1528C>T
  hgvsp: ENSP00000390521.2:p.Arg510Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1528C>T
  hgvsp: ENSP00000378926.2:p.Arg510Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1882C>T
  hgvsp: ENSP00000337103.2:p.Arg628Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1613C>T
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52442
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg628Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

10-50870734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870734
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870734
    reference: chr 10
allele count: 41
allele frequency: 3.377098331219215e-4
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1614G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1529G>A
  hgvsp: ENSP00000378926.2:p.Arg510Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1637G>A
  hgvsp: ENSP00000378929.2:p.Arg546Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1529G>A
  hgvsp: ENSP00000345878.3:p.Arg510Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1529G>A
  hgvsp: ENSP00000343486.1:p.Arg510Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1529G>A
  hgvsp: ENSP00000390521.2:p.Arg510Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1883G>A
  hgvsp: ENSP00000337103.2:p.Arg628Gln
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg628Gln
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

10-50870743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870743
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870743
    reference: chr 10
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1538C>T
  hgvsp: ENSP00000345878.3:p.Ala513Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1623C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1892C>T
  hgvsp: ENSP00000337103.2:p.Ala631Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1538C>T
  hgvsp: ENSP00000378926.2:p.Ala513Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1646C>T
  hgvsp: ENSP00000378929.2:p.Ala549Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1538C>T
  hgvsp: ENSP00000343486.1:p.Ala513Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1538C>T
  hgvsp: ENSP00000390521.2:p.Ala513Val
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala631Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

10-50870745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870745
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870745
    reference: chr 10
allele count: 11
allele frequency: 9.060358460727464e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1540C>T
  hgvsp: ENSP00000390521.2:p.Arg514Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1540C>T
  hgvsp: ENSP00000378926.2:p.Arg514Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1625C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1648C>T
  hgvsp: ENSP00000378929.2:p.Arg550Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1894C>T
  hgvsp: ENSP00000337103.2:p.Arg632Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1540C>T
  hgvsp: ENSP00000345878.3:p.Arg514Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1540C>T
  hgvsp: ENSP00000343486.1:p.Arg514Trp
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52449
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg632Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

10-50870746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870746
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870746
    reference: chr 10
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1541G>A
  hgvsp: ENSP00000343486.1:p.Arg514Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1895G>A
  hgvsp: ENSP00000337103.2:p.Arg632Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1541G>A
  hgvsp: ENSP00000378926.2:p.Arg514Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1626G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1649G>A
  hgvsp: ENSP00000378929.2:p.Arg550Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1541G>A
  hgvsp: ENSP00000345878.3:p.Arg514Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1541G>A
  hgvsp: ENSP00000390521.2:p.Arg514Gln
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52450
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Arg632Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

10-50870749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870749
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870749
    reference: chr 10
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1898C>T
  hgvsp: ENSP00000337103.2:p.Ala633Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1544C>T
  hgvsp: ENSP00000343486.1:p.Ala515Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1544C>T
  hgvsp: ENSP00000378926.2:p.Ala515Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1629C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1652C>T
  hgvsp: ENSP00000378929.2:p.Ala551Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1544C>T
  hgvsp: ENSP00000345878.3:p.Ala515Val
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1544C>T
  hgvsp: ENSP00000390521.2:p.Ala515Val
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala633Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

10-50870753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870753
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870753
    reference: chr 10
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1548G>A
  hgvsp: ENSP00000343486.1:p.Met516Ile
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1633G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1902G>A
  hgvsp: ENSP00000337103.2:p.Met634Ile
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1656G>A
  hgvsp: ENSP00000378929.2:p.Met552Ile
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1548G>A
  hgvsp: ENSP00000345878.3:p.Met516Ile
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1548G>A
  hgvsp: ENSP00000390521.2:p.Met516Ile
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1548G>A
  hgvsp: ENSP00000378926.2:p.Met516Ile
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met634Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

10-50870758-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870758
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870758
    reference: chr 10
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1907A>G
  hgvsp: ENSP00000337103.2:p.Lys636Arg
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1553A>G
  hgvsp: ENSP00000343486.1:p.Lys518Arg
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1553A>G
  hgvsp: ENSP00000390521.2:p.Lys518Arg
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1553A>G
  hgvsp: ENSP00000378926.2:p.Lys518Arg
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1661A>G
  hgvsp: ENSP00000378929.2:p.Lys554Arg
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1638A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1553A>G
  hgvsp: ENSP00000345878.3:p.Lys518Arg
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52449
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys636Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

10-50870760-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870760
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870760
    reference: chr 10
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1555G>A
  hgvsp: ENSP00000343486.1:p.Glu519Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1555G>A
  hgvsp: ENSP00000378926.2:p.Glu519Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1909G>A
  hgvsp: ENSP00000337103.2:p.Glu637Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1640G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1663G>A
  hgvsp: ENSP00000378929.2:p.Glu555Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1555G>A
  hgvsp: ENSP00000390521.2:p.Glu519Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1555G>A
  hgvsp: ENSP00000345878.3:p.Glu519Lys
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52449
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu637Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

10-50870762-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870762
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870762
    reference: chr 10
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1557G>A
  hgvsp: ENST00000351556.3:c.1557G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1557G>A
  hgvsp: ENST00000455728.2:c.1557G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1557G>A
  hgvsp: ENST00000339797.1:c.1557G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1665G>A
  hgvsp: ENST00000395562.2:c.1665G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1642G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1911G>A
  hgvsp: ENST00000337653.2:c.1911G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1557G>A
  hgvsp: ENST00000395559.2:c.1557G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu637Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

10-50870768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870768
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870768
    reference: chr 10
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1648C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1671C>T
  hgvsp: ENST00000395562.2:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1917C>T
  hgvsp: ENST00000337653.2:c.1917C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1563C>T
  hgvsp: ENST00000351556.3:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1563C>T
  hgvsp: ENST00000395559.2:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1563C>T
  hgvsp: ENST00000455728.2:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1563C>T
  hgvsp: ENST00000339797.1:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro639Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

10-50870769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870769
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870769
    reference: chr 10
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1564G>A
  hgvsp: ENSP00000390521.2:p.Glu522Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1649G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1918G>A
  hgvsp: ENSP00000337103.2:p.Glu640Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1564G>A
  hgvsp: ENSP00000343486.1:p.Glu522Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1672G>A
  hgvsp: ENSP00000378929.2:p.Glu558Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1564G>A
  hgvsp: ENSP00000345878.3:p.Glu522Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1564G>A
  hgvsp: ENSP00000378926.2:p.Glu522Lys
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu640Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-50870781-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870781
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870781
    reference: chr 10
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1930G>C
  hgvsp: ENSP00000337103.2:p.Asp644His
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1576G>C
  hgvsp: ENSP00000345878.3:p.Asp526His
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1576G>C
  hgvsp: ENSP00000390521.2:p.Asp526His
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1576G>C
  hgvsp: ENSP00000378926.2:p.Asp526His
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1684G>C
  hgvsp: ENSP00000378929.2:p.Asp562His
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1661G>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1576G>C
  hgvsp: ENSP00000343486.1:p.Asp526His
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52450
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp644His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

10-50870785-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870785
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870785
    reference: chr 10
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1580A>G
  hgvsp: ENSP00000390521.2:p.Glu527Gly
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1580A>G
  hgvsp: ENSP00000343486.1:p.Glu527Gly
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1934A>G
  hgvsp: ENSP00000337103.2:p.Glu645Gly
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1688A>G
  hgvsp: ENSP00000378929.2:p.Glu563Gly
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1580A>G
  hgvsp: ENSP00000345878.3:p.Glu527Gly
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1665A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1580A>G
  hgvsp: ENSP00000378926.2:p.Glu527Gly
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52451
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu645Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/10-50870786-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870786
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870786
    reference: chr 10
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1581A>C
  hgvsp: ENSP00000345878.3:p.Glu527Asp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1935A>C
  hgvsp: ENSP00000337103.2:p.Glu645Asp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1581A>C
  hgvsp: ENSP00000378926.2:p.Glu527Asp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1666A>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1581A>C
  hgvsp: ENSP00000343486.1:p.Glu527Asp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1689A>C
  hgvsp: ENSP00000378929.2:p.Glu563Asp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1581A>C
  hgvsp: ENSP00000390521.2:p.Glu527Asp
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu645Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

10-50870790-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870790
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870790
    reference: chr 10
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1585T>C
  hgvsp: ENSP00000378926.2:p.Tyr529His
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1693T>C
  hgvsp: ENSP00000378929.2:p.Tyr565His
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1585T>C
  hgvsp: ENSP00000343486.1:p.Tyr529His
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1585T>C
  hgvsp: ENSP00000345878.3:p.Tyr529His
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1585T>C
  hgvsp: ENSP00000390521.2:p.Tyr529His
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1670T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1939T>C
  hgvsp: ENSP00000337103.2:p.Tyr647His
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52451
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr647His
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

10-50870795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870795
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870795
    reference: chr 10
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1675G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1698G>A
  hgvsp: ENST00000395562.2:c.1698G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1590G>A
  hgvsp: ENST00000455728.2:c.1590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1590G>A
  hgvsp: ENST00000339797.1:c.1590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1590G>A
  hgvsp: ENST00000351556.3:c.1590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1590G>A
  hgvsp: ENST00000395559.2:c.1590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1944G>A
  hgvsp: ENST00000337653.2:c.1944G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52452
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu648Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

10-50870805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870805
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870805
    reference: chr 10
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1600C>T
  hgvsp: ENSP00000390521.2:p.Arg534Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1708C>T
  hgvsp: ENSP00000378929.2:p.Arg570Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1685C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1954C>T
  hgvsp: ENSP00000337103.2:p.Arg652Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1600C>T
  hgvsp: ENSP00000378926.2:p.Arg534Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1600C>T
  hgvsp: ENSP00000343486.1:p.Arg534Trp
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1600C>T
  hgvsp: ENSP00000345878.3:p.Arg534Trp
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52451
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg652Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

10-50870806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870806
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870806
    reference: chr 10
allele count: 70
allele frequency: 5.765682656826568e-4
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1709G>A
  hgvsp: ENSP00000378929.2:p.Arg570Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1601G>A
  hgvsp: ENSP00000390521.2:p.Arg534Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1601G>A
  hgvsp: ENSP00000345878.3:p.Arg534Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1601G>A
  hgvsp: ENSP00000343486.1:p.Arg534Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1955G>A
  hgvsp: ENSP00000337103.2:p.Arg652Gln
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1686G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1601G>A
  hgvsp: ENSP00000378926.2:p.Arg534Gln
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 9.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg652Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

10-50870807-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870807
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870807
    reference: chr 10
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1687G>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1602G>T
  hgvsp: ENST00000339797.1:c.1602G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1956G>T
  hgvsp: ENST00000337653.2:c.1956G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1602G>T
  hgvsp: ENST00000455728.2:c.1602G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1602G>T
  hgvsp: ENST00000395559.2:c.1602G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1602G>T
  hgvsp: ENST00000351556.3:c.1602G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1710G>T
  hgvsp: ENST00000395562.2:c.1710G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52460
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg652Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

10-50870822-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870822
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870822
    reference: chr 10
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1971T>C
  hgvsp: ENST00000337653.2:c.1971T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1617T>C
  hgvsp: ENST00000351556.3:c.1617T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1617T>C
  hgvsp: ENST00000339797.1:c.1617T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1702T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1725T>C
  hgvsp: ENST00000395562.2:c.1725T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1617T>C
  hgvsp: ENST00000395559.2:c.1617T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1617T>C
  hgvsp: ENST00000455728.2:c.1617T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52460
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr657Thr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

10-50870824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870824
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870824
    reference: chr 10
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1704G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1619G>A
  hgvsp: ENSP00000345878.3:p.Ser540Asn
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1619G>A
  hgvsp: ENSP00000378926.2:p.Ser540Asn
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1727G>A
  hgvsp: ENSP00000378929.2:p.Ser576Asn
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1619G>A
  hgvsp: ENSP00000343486.1:p.Ser540Asn
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1973G>A
  hgvsp: ENSP00000337103.2:p.Ser658Asn
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1619G>A
  hgvsp: ENSP00000390521.2:p.Ser540Asn
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser658Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/10-50870826-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870826
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870826
    reference: chr 10
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1621C>A
  hgvsp: ENSP00000345878.3:p.Gln541Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1706C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1975C>A
  hgvsp: ENSP00000337103.2:p.Gln659Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1729C>A
  hgvsp: ENSP00000378929.2:p.Gln577Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1621C>A
  hgvsp: ENSP00000343486.1:p.Gln541Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1621C>A
  hgvsp: ENSP00000378926.2:p.Gln541Lys
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1621C>A
  hgvsp: ENSP00000390521.2:p.Gln541Lys
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52460
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln659Lys
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

10-50870832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870832
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870832
    reference: chr 10
allele count: 19
allele frequency: 1.565099919273794e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+4C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+4C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+4C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+4C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+4C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+4C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+4C>T
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1977+4C>T
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

10-50870833-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870833
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870833
    reference: chr 10
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+5G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+5G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+5G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+5G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+5G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+5G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+5G>A
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1977+5G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

10-50870834-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870834
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870833
    reference: chr 10
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+10delC
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+10delC
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+10delC
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+10delC
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+10delC
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+10delC
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+10delC
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1977+10delC
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: GC
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

10-50870838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870838
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870838
    reference: chr 10
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+10C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+10C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+10C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+10C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+10C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+10C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+10C>T
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52459
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

10-50870839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870839
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870839
    reference: chr 10
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+11G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+11G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+11G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+11G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+11G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+11G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+11G>A
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52460
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

10-50870840-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870840
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870840
    reference: chr 10
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+12T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+12T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+12T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+12T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+12T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+12T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+12T>C
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

10-50870844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870844
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870844
    reference: chr 10
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+16G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+16G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+16G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+16G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+16G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+16G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+16G>A
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

10-50870849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870849
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870849
    reference: chr 10
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+21C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+21C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+21C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+21C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+21C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+21C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+21C>T
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

10-50870850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870850
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870850
    reference: chr 10
allele count: 5
allele frequency: 4.11868399808893e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+22G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+22G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+22G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+22G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+22G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+22G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+22G>A
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

10-50870864-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870864
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870864
    reference: chr 10
allele count: 5
allele frequency: 4.119023297195769e-5
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+36T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+36T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+36T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+36T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+36T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+36T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+36T>C
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

10-50870871-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870871
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870870
    reference: chr 10
allele count: 145
allele frequency: 1.194516756186773e-3
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+45delA
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+45delA
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+45delA
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+45delA
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+45delA
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+45delA
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+45delA
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 9.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: TA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

10-50870875-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870875
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870874
    reference: chr 10
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+50delT
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+50delT
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+50delT
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+50delT
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+50delT
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+50delT
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+50delT
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: CT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

10-50870876-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50870876
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50870876
    reference: chr 10
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1731+48T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1977+48T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1708+48T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1623+48T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1623+48T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1623+48T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+48T>C
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum

10-50872775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50872775
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50872775
    reference: chr 10
allele count: 4
allele frequency: 3.296956908773203e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1732-48C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1709-48C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+1947C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1624-48C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1624-48C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1624-48C>T
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1978-48C>T
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

10-50872776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50872776
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50872776
    reference: chr 10
allele count: 37
allele frequency: 3.048730245051993e-4
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1624-47G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1732-47G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1978-47G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1624-47G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+1948G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1624-47G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1709-47G>A
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

10-50872795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50872795
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50872795
    reference: chr 10
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1709-28G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1732-28G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1624-28G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1624-28G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1624-28G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1978-28G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+1967G>A
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

10-50872799-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50872799
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50872799
    reference: chr 10
allele count: 200
allele frequency: 1.647392178181938e-3
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1624-24C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+1971C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1709-24C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1978-24C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1732-24C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1624-24C>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1624-24C>G
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 9.75e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/10-50872801-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50872801
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50872801
    reference: chr 10
allele count: 43
allele frequency: 3.541893183091167e-4
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+1973C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1732-22C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1624-22C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1624-22C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1709-22C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1978-22C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1624-22C>A
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

10-50872805-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50872805
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50872805
    reference: chr 10
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+1977A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1709-18A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1732-18A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1624-18A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1624-18A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1978-18A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1624-18A>G
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40400
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

10-50872813-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50872813
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50872813
    reference: chr 10
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1624-10T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1732-10T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1624-10T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1709-10T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1624-10T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+1985T>C
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1978-10T>C
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/10-50872814-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50872814
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50872814
    reference: chr 10
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+1986C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1624-9C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1624-9C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1978-9C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1732-9C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1624-9C>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1709-9C>A
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40399
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

10-50872821-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50872821
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50872821
    reference: chr 10
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1978-2A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+1993A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1624-2A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1624-2A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1624-2A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1732-2A>G
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1709-2A>G
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  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: 1702
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1978-2A>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

10-50872837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50872837
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50872837
    reference: chr 10
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1746G>A
  hgvsp: ENST00000395562.2:c.1746G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1638G>A
  hgvsp: ENST00000339797.1:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1638G>A
  hgvsp: ENST00000395559.2:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1992G>A
  hgvsp: ENST00000337653.2:c.1992G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+2009G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1723G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1638G>A
  hgvsp: ENST00000351556.3:c.1638G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr664Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-50872840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50872840
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 50872840
    reference: chr 10
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000473443
  ensembl transcript: ENST00000466590
  gene symbol: CHAT
  hgvsc: ENST00000466590.2:c.*1726G>A
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378926
  ensembl transcript: ENST00000395559
  gene symbol: CHAT
  hgvsc: ENST00000395559.2:c.1641G>A
  hgvsp: ENST00000395559.2:c.1641G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000345878
  ensembl transcript: ENST00000351556
  gene symbol: CHAT
  hgvsc: ENST00000351556.3:c.1641G>A
  hgvsp: ENST00000351556.3:c.1641G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000337103
  ensembl transcript: ENST00000337653
  gene symbol: CHAT
  hgvsc: ENST00000337653.2:c.1995G>A
  hgvsp: ENST00000337653.2:c.1995G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000378929
  ensembl transcript: ENST00000395562
  gene symbol: CHAT
  hgvsc: ENST00000395562.2:c.1749G>A
  hgvsp: ENST00000395562.2:c.1749G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000343486
  ensembl transcript: ENST00000339797
  gene symbol: CHAT
  hgvsc: ENST00000339797.1:c.1641G>A
  hgvsp: ENST00000339797.1:c.1641G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1912
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070748
  ensembl protein: ENSP00000390521
  ensembl transcript: ENST00000455728
  gene symbol: CHAT
  hgvsc: ENST00000455728.2:c.1623+2012G>A
  variant of: http://identifiers.org/hgnc/1912
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu665Glu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

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

African
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allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

InbreedingCoeff
type: SiteQuality
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DP
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SIO_000300: 3.068779e6

BaseQRankSum
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SIO_000300: 5.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

FS
type: SiteQuality
SIO_000300: 9.625e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
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SIO_000300: 1.386e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: -1.018e0

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 908
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: 66634
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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

MQ
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SIO_000300: 5.953e1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -6.72e-1

ClippingRankSum
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SIO_000300: -2.88e-1

DP
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FS
type: SiteQuality
SIO_000300: 1.059e0

BaseQRankSum
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QD
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SIO_000300: 1.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-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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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
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: 0.0e0
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East Asian
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.067698e6

ReadPosRankSum
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MQRankSum
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SIO_000300: -1.051e0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 4.112e0

BaseQRankSum
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SIO_000300: 4.02e0

QD
type: SiteQuality
SIO_000300: 1.316e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
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
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

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

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

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 3.065795e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.927e0

FS
type: SiteQuality
SIO_000300: 5.011e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
SIO_000300: 5.011e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.927e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

DP
type: SiteQuality
SIO_000300: 3.065795e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.286e1

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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

Latino
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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: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.051240463747222e-4
allele num: 66588
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.352e1

DP
type: SiteQuality
SIO_000300: 3.064733e6

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

South Asian
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allele frequency: 5.451241671714113e-4
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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.439e0

DP
type: SiteQuality
SIO_000300: 3.064526e6

FS
type: SiteQuality
SIO_000300: 6.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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SIO_000300: -6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ReadPosRankSum
type: SiteQuality
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QD
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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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8638
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
allele num: 16510
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.704e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 1.393e1

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: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
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: 908
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

DP
type: SiteQuality
SIO_000300: 3.057172e6

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.995e0

MQRankSum
type: SiteQuality
SIO_000300: -5.13e-1

MQ
type: SiteQuality
SIO_000300: 5.852e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.277e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.729e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.874e0

FS
type: SiteQuality
SIO_000300: 1.698e0

QD
type: SiteQuality
SIO_000300: 1.505e1

VQSLOD
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SIO_000300: -1.47e0

BaseQRankSum
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SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-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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variant carriers: 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: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
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
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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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.660725e6

VQSLOD
type: SiteQuality
SIO_000300: 4.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

BaseQRankSum
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SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.35e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
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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: 8638
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.08e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: 4.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 3.660725e6

QD
type: SiteQuality
SIO_000300: 1.35e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
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: 0
allele frequency: 0.0e0
allele num: 66638
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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

FS
type: SiteQuality
SIO_000300: 8.460000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

QD
type: SiteQuality
SIO_000300: 1.06e1

VQSLOD
type: SiteQuality
SIO_000300: -1.427e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.661817e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Finnish)
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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: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.11e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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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bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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 frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8646
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 4.499235130027895e-5
allele num: 66678
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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South Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

African
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East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Non-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: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

DP
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QD
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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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 num: 66704
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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DP
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
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East Asian
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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DP
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VQSLOD
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MQ
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MQRankSum
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SIO_000300: -8.120000000000001e-1

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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South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

African
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Other
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num of homozygotes: 0

East Asian
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ClippingRankSum
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QD
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DP
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.476e0

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: -1.088e0

BaseQRankSum
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SIO_000300: 3.92e-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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East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 3.666004e6

MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 5.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
allele num: 16512
num of homozygotes: 0

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

East Asian
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allele frequency: 3.005085529357374e-3
allele num: 8652
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele num: 908
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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: 0.0e0
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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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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variant carriers: 0

Latino
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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
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European (Finnish)
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East Asian
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African
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Other
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South Asian
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allele num: 16512
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MQ
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DP
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10406
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East Asian
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 5.394389834572045e-4
allele num: 66736
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South Asian
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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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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South Asian
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European (Finnish)
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Other
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African
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East Asian
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Latino
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European (Non-Finnish)
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allele num: 66736
num of homozygotes: 0

VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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BaseQRankSum
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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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European (Finnish)
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Latino
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East Asian
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Other
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European (Non-Finnish)
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African
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South Asian
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
SIO_000300: 1.463e1

DP
type: SiteQuality
SIO_000300: 3.668936e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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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: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

InbreedingCoeff
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MQ
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FS
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SIO_000300: 1.106e0

MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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QD
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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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variant carriers: 0

East Asian
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num of homozygotes: 0

African
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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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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 num: 66738
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Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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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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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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African
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele num: 66738
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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MQ
type: SiteQuality
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ClippingRankSum
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MQRankSum
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SIO_000300: -1.591e0

QD
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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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variant carriers: 0

East Asian
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African
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Latino
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
type: SiteQuality
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 4.27e0

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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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Finnish)
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num of homozygotes: 0

Latino
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East Asian
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African
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Other
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num of homozygotes: 0

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

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

East Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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South Asian
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QD
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VQSLOD
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ClippingRankSum
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FS
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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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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East Asian
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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Latino
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South Asian
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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
allele num: 16512
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ReadPosRankSum
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MQ
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SIO_000300: 5.978e1

DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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VQSLOD
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SIO_000300: -1.674e0

FS
type: SiteQuality
SIO_000300: 1.8229e1

MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.77e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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SIO_000300: -1.5e0

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

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

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

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

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

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

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

ClippingRankSum
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QD
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DP
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SIO_000300: 3.668998e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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SIO_000300: 1.0108e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: -9.856e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.76e-1

MQRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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DP
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SIO_000300: 3.668918e6

QD
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SIO_000300: 1.311e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 5.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-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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bin: 8.25e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.77e-1

FS
type: SiteQuality
SIO_000300: 8.49e-1

BaseQRankSum
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SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 1.442e1

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

DP
type: SiteQuality
SIO_000300: 3.669048e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 70

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 53
allele frequency: 6.124335567367691e-3
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 12
allele frequency: 1.798129944857348e-4
allele num: 66736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

FS
type: SiteQuality
SIO_000300: 1.733e0

DP
type: SiteQuality
SIO_000300: 3.675975e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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 frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

Latino
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South Asian
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East Asian
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African
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

Latino
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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East Asian
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African
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allele frequency: 9.609840476648087e-5
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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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
allele num: 8654
num of homozygotes: 0

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

African
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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.403e-1

DP
type: SiteQuality
SIO_000300: 3.670625e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.374e1

VQSLOD
type: SiteQuality
SIO_000300: 1.438e1

GenotypeQuality
all individuals: 988
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
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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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52461
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 745
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.8472950696838e-4
allele num: 66730
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.672169e6

QD
type: SiteQuality
SIO_000300: 1.158e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

FS
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

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

GenotypeQuality
all individuals: 1032
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variant carriers: 0

GenotypeQuality
all individuals: 744
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1604
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 988
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495594317568783e-5
allele num: 66732
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: 8654
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.109999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.185e-1

DP
type: SiteQuality
SIO_000300: 3.671277e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.563e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1230
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variant carriers: 0

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

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

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.038e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

FS
type: SiteQuality
SIO_000300: 8.827e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

DP
type: SiteQuality
SIO_000300: 3.670792e6

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.881e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1541
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
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variant carriers: 0

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

GenotypeQuality
all individuals: 8
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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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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 906
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.346e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

FS
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 1.85e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

DP
type: SiteQuality
SIO_000300: 3.670681e6

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

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

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1583
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variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.474e0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

DP
type: SiteQuality
SIO_000300: 3.670638e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.626e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

DP
type: SiteQuality
SIO_000300: 3.670482e6

QD
type: SiteQuality
SIO_000300: 4.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.808e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.283e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

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

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
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.92e-1

QD
type: SiteQuality
SIO_000300: 1.985e1

BaseQRankSum
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SIO_000300: -1.302e0

FS
type: SiteQuality
SIO_000300: 1.484e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.271e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 3.670419e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
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

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

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

QD
type: SiteQuality
SIO_000300: 1.174e1

DP
type: SiteQuality
SIO_000300: 3.670026e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.713e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.062e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 7.75e1
variant carriers: 0

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

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

African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.82e-1

QD
type: SiteQuality
SIO_000300: 1.023e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.071e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.670244e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 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: 11574
num of homozygotes: 0

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

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

African
type: Population
allele count: 5
allele frequency: 4.805843906189927e-4
allele num: 10404
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: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

DP
type: SiteQuality
SIO_000300: 3.669242e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.58e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.411e1

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

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

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52517
bin: 9.75e1
variant carriers: 145

GenotypeQuality
all individuals: 1037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.048038707447727e-4
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

African
type: Population
allele count: 137
allele frequency: 1.31680123029604e-2
allele num: 10404
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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.014e1

QD
type: SiteQuality
SIO_000300: 1.452e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.673379e6

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e0

GenotypeQuality
all individuals: 1333
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52509
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 8.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 8654
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.52e-1

FS
type: SiteQuality
SIO_000300: 2.249e0

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.014e1

DP
type: SiteQuality
SIO_000300: 3.672447e6

QD
type: SiteQuality
SIO_000300: 1.042e1

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

GenotypeQuality
all individuals: 52509
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 6.75e1
variant carriers: 0

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

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

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

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

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: 16508
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 1.394e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.31e-2

QD
type: SiteQuality
SIO_000300: 1.789e1

DP
type: SiteQuality
SIO_000300: 3.67232e6

MQRankSum
type: SiteQuality
SIO_000300: -2.94e-1

GenotypeQuality
all individuals: 2530
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4972
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40469
bin: 9.75e1
variant carriers: 4

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 3
allele frequency: 2.894635275955229e-4
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 3.393e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.311e0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.581e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

MQ
type: SiteQuality
SIO_000300: 5.645e1

DP
type: SiteQuality
SIO_000300: 3.305215e6

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5158
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40470
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 2831
bin: 8.25e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 36
allele frequency: 3.466872110939908e-3
allele num: 10384
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.39e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 1.892e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

DP
type: SiteQuality
SIO_000300: 3.304131e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

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

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40466
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
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variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 7.75e1
variant carriers: 0

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

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

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

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: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.363e1

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.634e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.878e0

DP
type: SiteQuality
SIO_000300: 3.303396e6

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

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

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40498
bin: 9.75e1
variant carriers: 200

GenotypeQuality
all individuals: 5560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3134
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 179
allele frequency: 1.720822918669487e-2
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.500777336327518e-4
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.348597458643011e-4
allele num: 66736
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 1.406e0

QD
type: SiteQuality
SIO_000300: 1.451e1

DP
type: SiteQuality
SIO_000300: 3.310233e6

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 2855
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5589
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variant carriers: 0

GenotypeQuality
all individuals: 1487
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 6.75e1
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GenotypeQuality
all individuals: 40400
bin: 9.75e1
variant carriers: 43

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

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.084302325581395e-4
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.446415727643251e-4
allele num: 66736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.97e-2

QD
type: SiteQuality
SIO_000300: 1.273e1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.426e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 3.298308e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2858
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 9.25e1
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GenotypeQuality
all individuals: 2833
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.297559e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 2.984e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.26e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.49e-1

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.235e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.926e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.447e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.110000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

DP
type: SiteQuality
SIO_000300: 3.297913e6

GenotypeQuality
all individuals: 2861
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.297841e6

MQ
type: SiteQuality
SIO_000300: 5.869e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.635e0

FS
type: SiteQuality
SIO_000300: 2.4503e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.842e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

QD
type: SiteQuality
SIO_000300: 1.662e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.66e-1

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.053e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.564e0

FS
type: SiteQuality
SIO_000300: 1.593e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 3.298022e6

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 8.75e1
variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 3.298351e6

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.919e0

QD
type: SiteQuality
SIO_000300: 1.364e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1