1-35972255-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972255
    reference: chr 1
allele count: 11
allele frequency: 9.109127345600292e-5
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27442C>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.624C>G
  hgvsp: ENSP00000420742.2:p.Asp208Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.545C>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.624C>G
  hgvsp: ENSP00000318406.3:p.Asp208Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.624C>G
  hgvsp: ENSP00000407576.1:p.Asp208Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.624C>G
  hgvsp: ENSP00000419396.1:p.Asp208Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.624C>G
  hgvsp: ENSP00000420369.1:p.Asp208Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.214C>G
  hgvsp: ENSP00000393862.1:p.Asp72Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.624C>G
  hgvsp: ENSP00000395883.2:p.Asp208Glu
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp208Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

1-35972259-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972259
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972259
    reference: chr 1
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.620A>G
  hgvsp: ENSP00000395883.2:p.Asn207Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.620A>G
  hgvsp: ENSP00000318406.3:p.Asn207Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.210A>G
  hgvsp: ENSP00000393862.1:p.Asn71Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.541A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.620A>G
  hgvsp: ENSP00000420369.1:p.Asn207Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.620A>G
  hgvsp: ENSP00000419396.1:p.Asn207Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27446A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.620A>G
  hgvsp: ENSP00000420742.2:p.Asn207Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.620A>G
  hgvsp: ENSP00000407576.1:p.Asn207Ser
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn207Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-35972263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972263
    reference: chr 1
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.616G>A
  hgvsp: ENSP00000407576.1:p.Val206Met
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.616G>A
  hgvsp: ENSP00000419396.1:p.Val206Met
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.616G>A
  hgvsp: ENSP00000318406.3:p.Val206Met
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.206G>A
  hgvsp: ENSP00000393862.1:p.Val70Met
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.616G>A
  hgvsp: ENSP00000395883.2:p.Val206Met
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27450G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.616G>A
  hgvsp: ENSP00000420369.1:p.Val206Met
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.616G>A
  hgvsp: ENSP00000420742.2:p.Val206Met
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.537G>A
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val206Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-35972272-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972272
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972272
    reference: chr 1
allele count: 4
allele frequency: 3.298805832288711e-5
allele num: 121256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.197C>G
  hgvsp: ENSP00000393862.1:p.His67Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.607C>G
  hgvsp: ENSP00000419396.1:p.His203Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.528C>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.607C>G
  hgvsp: ENSP00000420742.2:p.His203Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.607C>G
  hgvsp: ENSP00000395883.2:p.His203Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.607C>G
  hgvsp: ENSP00000420369.1:p.His203Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.607C>G
  hgvsp: ENSP00000407576.1:p.His203Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.607C>G
  hgvsp: ENSP00000318406.3:p.His203Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27459C>G
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His203Asp
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-35972273-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972273
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972273
    reference: chr 1
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.196G>T
  hgvsp: ENSP00000393862.1:p.Gln66His
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.606G>T
  hgvsp: ENSP00000420742.2:p.Gln202His
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.606G>T
  hgvsp: ENSP00000318406.3:p.Gln202His
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.606G>T
  hgvsp: ENSP00000420369.1:p.Gln202His
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.527G>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.606G>T
  hgvsp: ENSP00000407576.1:p.Gln202His
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.606G>T
  hgvsp: ENSP00000419396.1:p.Gln202His
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.606G>T
  hgvsp: ENSP00000395883.2:p.Gln202His
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27460G>T
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15009
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln202His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

1-35972275-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972275
    reference: chr 1
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.604C>G
  hgvsp: ENSP00000420742.2:p.Gln202Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.604C>G
  hgvsp: ENSP00000318406.3:p.Gln202Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.604C>G
  hgvsp: ENSP00000407576.1:p.Gln202Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.525C>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.604C>G
  hgvsp: ENSP00000419396.1:p.Gln202Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.194C>G
  hgvsp: ENSP00000393862.1:p.Gln66Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.604C>G
  hgvsp: ENSP00000420369.1:p.Gln202Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.604C>G
  hgvsp: ENSP00000395883.2:p.Gln202Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27462C>G
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln202Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-35972287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972287
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.592C>T
  hgvsp: ENSP00000420742.2:p.Pro198Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.592C>T
  hgvsp: ENSP00000318406.3:p.Pro198Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.182C>T
  hgvsp: ENSP00000393862.1:p.Pro62Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.513C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.592C>T
  hgvsp: ENSP00000395883.2:p.Pro198Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.592C>T
  hgvsp: ENSP00000420369.1:p.Pro198Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.592C>T
  hgvsp: ENSP00000407576.1:p.Pro198Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27474C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.592C>T
  hgvsp: ENSP00000419396.1:p.Pro198Ser
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro198Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-35972296-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972296
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972296
    reference: chr 1
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.583G>A
  hgvsp: ENSP00000420742.2:p.Val195Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.583G>A
  hgvsp: ENSP00000318406.3:p.Val195Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.583G>A
  hgvsp: ENSP00000420369.1:p.Val195Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.583G>A
  hgvsp: ENSP00000395883.2:p.Val195Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.173G>A
  hgvsp: ENSP00000393862.1:p.Val59Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.583G>A
  hgvsp: ENSP00000407576.1:p.Val195Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.583G>A
  hgvsp: ENSP00000419396.1:p.Val195Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27483G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.504G>A
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val195Ile
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

1-35972297-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972297
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972297
    reference: chr 1
allele count: 5
allele frequency: 4.119159032491926e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.503C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.172C>T
  hgvsp: ENST00000431916.1:c.172C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.582C>T
  hgvsp: ENST00000482929.2:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.582C>T
  hgvsp: ENST00000325722.3:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.582C>T
  hgvsp: ENST00000469892.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.582C>T
  hgvsp: ENST00000426982.2:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.582C>T
  hgvsp: ENST00000440579.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.582C>T
  hgvsp: ENST00000478463.2:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27484C>T
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp194Asp
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-35972302-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972302
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972302
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.577A>C
  hgvsp: ENSP00000420369.1:p.Ser193Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.577A>C
  hgvsp: ENSP00000420742.2:p.Ser193Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.577A>C
  hgvsp: ENSP00000318406.3:p.Ser193Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.498A>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27489A>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.577A>C
  hgvsp: ENSP00000407576.1:p.Ser193Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.167A>C
  hgvsp: ENSP00000393862.1:p.Ser57Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.577A>C
  hgvsp: ENSP00000395883.2:p.Ser193Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.577A>C
  hgvsp: ENSP00000419396.1:p.Ser193Arg
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser193Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-35972304-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972304
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972304
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.165C>T
  hgvsp: ENSP00000393862.1:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.575C>T
  hgvsp: ENSP00000407576.1:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.575C>T
  hgvsp: ENSP00000420742.2:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.496C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.575C>T
  hgvsp: ENSP00000420369.1:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.575C>T
  hgvsp: ENSP00000318406.3:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.575C>T
  hgvsp: ENSP00000419396.1:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27491C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.575C>T
  hgvsp: ENSP00000395883.2:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro192Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

1-35972312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972312
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972312
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.567A>G
  hgvsp: ENST00000478463.2:c.567A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.567A>G
  hgvsp: ENST00000440579.1:c.567A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.567A>G
  hgvsp: ENST00000426982.2:c.567A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.567A>G
  hgvsp: ENST00000482929.2:c.567A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27499A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.567A>G
  hgvsp: ENST00000469892.1:c.567A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.157A>G
  hgvsp: ENST00000431916.1:c.157A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.488A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.567A>G
  hgvsp: ENST00000325722.3:c.567A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg189Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

1-35972334-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972334
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972334
    reference: chr 1
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.545T>C
  hgvsp: ENSP00000420369.1:p.Leu182Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.545T>C
  hgvsp: ENSP00000419396.1:p.Leu182Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.545T>C
  hgvsp: ENSP00000420742.2:p.Leu182Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.545T>C
  hgvsp: ENSP00000318406.3:p.Leu182Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.135T>C
  hgvsp: ENSP00000393862.1:p.Leu46Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.545T>C
  hgvsp: ENSP00000395883.2:p.Leu182Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27521T>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.545T>C
  hgvsp: ENSP00000407576.1:p.Leu182Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.466T>C
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15115
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu182Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/1-35972335-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972335
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972335
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.544T>G
  hgvsp: ENSP00000318406.3:p.Leu182Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.544T>G
  hgvsp: ENSP00000420742.2:p.Leu182Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.134T>G
  hgvsp: ENSP00000393862.1:p.Leu46Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.544T>G
  hgvsp: ENSP00000407576.1:p.Leu182Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.544T>G
  hgvsp: ENSP00000419396.1:p.Leu182Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27522T>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.544T>G
  hgvsp: ENSP00000420369.1:p.Leu182Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.544T>G
  hgvsp: ENSP00000395883.2:p.Leu182Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.465T>G
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu182Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

1-35972352-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972352
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972352
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.448C>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.527C>A
  hgvsp: ENSP00000420369.1:p.Ser176Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.527C>A
  hgvsp: ENSP00000419396.1:p.Ser176Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.527C>A
  hgvsp: ENSP00000395883.2:p.Ser176Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.527C>A
  hgvsp: ENSP00000318406.3:p.Ser176Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.527C>A
  hgvsp: ENSP00000420742.2:p.Ser176Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.527C>A
  hgvsp: ENSP00000407576.1:p.Ser176Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.527C>A
  hgvsp: ENSP00000420226.1:p.Ser176Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27539C>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.117C>A
  hgvsp: ENSP00000393862.1:p.Ser40Tyr
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser176Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

1-35972353-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972353
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972353
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.526T>A
  hgvsp: ENSP00000420742.2:p.Ser176Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.526T>A
  hgvsp: ENSP00000419396.1:p.Ser176Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.447T>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.526T>A
  hgvsp: ENSP00000420369.1:p.Ser176Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.526T>A
  hgvsp: ENSP00000407576.1:p.Ser176Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.526T>A
  hgvsp: ENSP00000395883.2:p.Ser176Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.526T>A
  hgvsp: ENSP00000420226.1:p.Ser176Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.116T>A
  hgvsp: ENSP00000393862.1:p.Ser40Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.526T>A
  hgvsp: ENSP00000318406.3:p.Ser176Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27540T>A
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser176Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

1-35972373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972373
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972373
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27560C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.506C>T
  hgvsp: ENSP00000420226.1:p.Ala169Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.506C>T
  hgvsp: ENSP00000420369.1:p.Ala169Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.506C>T
  hgvsp: ENSP00000407576.1:p.Ala169Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.96C>T
  hgvsp: ENSP00000393862.1:p.Ala33Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.506C>T
  hgvsp: ENSP00000420742.2:p.Ala169Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.506C>T
  hgvsp: ENSP00000419396.1:p.Ala169Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.506C>T
  hgvsp: ENSP00000395883.2:p.Ala169Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.506C>T
  hgvsp: ENSP00000318406.3:p.Ala169Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.427C>T
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23917
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala169Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-35972377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972377
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972377
    reference: chr 1
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27564G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.92G>A
  hgvsp: ENSP00000393862.1:p.Ala32Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.502G>A
  hgvsp: ENSP00000395883.2:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.502G>A
  hgvsp: ENSP00000318406.3:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.502G>A
  hgvsp: ENSP00000420226.1:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.502G>A
  hgvsp: ENSP00000420742.2:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.502G>A
  hgvsp: ENSP00000419396.1:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.502G>A
  hgvsp: ENSP00000420369.1:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.423G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.502G>A
  hgvsp: ENSP00000407576.1:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala168Thr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/1-35972388-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972388
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972388
    reference: chr 1
allele count: 6
allele frequency: 4.942583653228331e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.491G>T
  hgvsp: ENSP00000420226.1:p.Ser164Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.491G>T
  hgvsp: ENSP00000420369.1:p.Ser164Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.491G>T
  hgvsp: ENSP00000318406.3:p.Ser164Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.491G>T
  hgvsp: ENSP00000407576.1:p.Ser164Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.491G>T
  hgvsp: ENSP00000395883.2:p.Ser164Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27575G>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.491G>T
  hgvsp: ENSP00000419396.1:p.Ser164Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.491G>T
  hgvsp: ENSP00000420742.2:p.Ser164Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.81G>T
  hgvsp: ENSP00000393862.1:p.Ser28Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.412G>T
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15092
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser164Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-35972395-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972395
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972395
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27582A>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.484A>C
  hgvsp: ENST00000440579.1:c.484A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.484A>C
  hgvsp: ENST00000494948.1:c.484A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.484A>C
  hgvsp: ENST00000478463.2:c.484A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.484A>C
  hgvsp: ENST00000469892.1:c.484A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.405A>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.484A>C
  hgvsp: ENST00000482929.2:c.484A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.484A>C
  hgvsp: ENST00000325722.3:c.484A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.484A>C
  hgvsp: ENST00000426982.2:c.484A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.74A>C
  hgvsp: ENST00000431916.1:c.74A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg162Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-35972396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972396
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972396
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.483G>A
  hgvsp: ENSP00000407576.1:p.Trp161Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27583G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.483G>A
  hgvsp: ENSP00000419396.1:p.Trp161Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.73G>A
  hgvsp: ENSP00000393862.1:p.Trp25Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.483G>A
  hgvsp: ENSP00000420226.1:p.Trp161Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.483G>A
  hgvsp: ENSP00000395883.2:p.Trp161Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.483G>A
  hgvsp: ENSP00000318406.3:p.Trp161Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.483G>A
  hgvsp: ENSP00000420369.1:p.Trp161Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.483G>A
  hgvsp: ENSP00000420742.2:p.Trp161Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.404G>A
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp161Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-35972403-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972403
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972403
    reference: chr 1
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.476C>G
  hgvsp: ENSP00000420226.1:p.Ala159Gly
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.66C>G
  hgvsp: ENSP00000393862.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.476C>G
  hgvsp: ENSP00000318406.3:p.Ala159Gly
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.476C>G
  hgvsp: ENSP00000419396.1:p.Ala159Gly
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.476C>G
  hgvsp: ENSP00000407576.1:p.Ala159Gly
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.476C>G
  hgvsp: ENSP00000420742.2:p.Ala159Gly
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.397C>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.476C>G
  hgvsp: ENSP00000420369.1:p.Ala159Gly
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.476C>G
  hgvsp: ENSP00000395883.2:p.Ala159Gly
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27590C>G
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala159Gly
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/1-35972404-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972404
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972404
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.475G>T
  hgvsp: ENSP00000420369.1:p.Ala159Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.65G>T
  hgvsp: ENSP00000393862.1:p.Ala23Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.475G>T
  hgvsp: ENSP00000407576.1:p.Ala159Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.396G>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.475G>T
  hgvsp: ENSP00000395883.2:p.Ala159Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.475G>T
  hgvsp: ENSP00000318406.3:p.Ala159Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27591G>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.475G>T
  hgvsp: ENSP00000420742.2:p.Ala159Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.475G>T
  hgvsp: ENSP00000419396.1:p.Ala159Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.475G>T
  hgvsp: ENSP00000420226.1:p.Ala159Ser
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala159Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-35972408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972408
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972408
    reference: chr 1
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.471C>T
  hgvsp: ENST00000440579.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27595C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.471C>T
  hgvsp: ENST00000494948.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.471C>T
  hgvsp: ENST00000426982.2:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.471C>T
  hgvsp: ENST00000478463.2:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.471C>T
  hgvsp: ENST00000482929.2:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.61C>T
  hgvsp: ENST00000431916.1:c.61C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.471C>T
  hgvsp: ENST00000469892.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.471C>T
  hgvsp: ENST00000325722.3:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.392C>T
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn157Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

1-35972409-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972409
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972409
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.470A>T
  hgvsp: ENSP00000420369.1:p.Asn157Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.470A>T
  hgvsp: ENSP00000318406.3:p.Asn157Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.470A>T
  hgvsp: ENSP00000395883.2:p.Asn157Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.470A>T
  hgvsp: ENSP00000420742.2:p.Asn157Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.391A>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.470A>T
  hgvsp: ENSP00000407576.1:p.Asn157Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.60A>T
  hgvsp: ENSP00000393862.1:p.Asn21Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.470A>T
  hgvsp: ENSP00000420226.1:p.Asn157Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27596A>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.470A>T
  hgvsp: ENSP00000419396.1:p.Asn157Ile
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn157Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-35972415-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972415
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972415
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.464G>T
  hgvsp: ENSP00000420226.1:p.Gly155Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.464G>T
  hgvsp: ENSP00000318406.3:p.Gly155Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.464G>T
  hgvsp: ENSP00000395883.2:p.Gly155Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.464G>T
  hgvsp: ENSP00000407576.1:p.Gly155Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27602G>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.464G>T
  hgvsp: ENSP00000420742.2:p.Gly155Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.464G>T
  hgvsp: ENSP00000420369.1:p.Gly155Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.464G>T
  hgvsp: ENSP00000419396.1:p.Gly155Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.54G>T
  hgvsp: ENSP00000393862.1:p.Gly19Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.385G>T
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly155Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

1-35972415-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972415
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972415
    reference: chr 1
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.464G>A
  hgvsp: ENSP00000419396.1:p.Gly155Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.385G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.464G>A
  hgvsp: ENSP00000407576.1:p.Gly155Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.464G>A
  hgvsp: ENSP00000395883.2:p.Gly155Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.54G>A
  hgvsp: ENSP00000393862.1:p.Gly19Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.464G>A
  hgvsp: ENSP00000420369.1:p.Gly155Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27602G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.464G>A
  hgvsp: ENSP00000420742.2:p.Gly155Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.464G>A
  hgvsp: ENSP00000318406.3:p.Gly155Asp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.464G>A
  hgvsp: ENSP00000420226.1:p.Gly155Asp
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly155Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-35972420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972420
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972420
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.459G>A
  hgvsp: ENST00000440579.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.459G>A
  hgvsp: ENST00000494948.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.459G>A
  hgvsp: ENST00000478463.2:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.459G>A
  hgvsp: ENST00000469892.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.459G>A
  hgvsp: ENST00000482929.2:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27607G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.459G>A
  hgvsp: ENST00000325722.3:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.459G>A
  hgvsp: ENST00000426982.2:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.49G>A
  hgvsp: ENST00000431916.1:c.49G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.380G>A
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly153Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

1-35972437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972437
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972437
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.442G>A
  hgvsp: ENSP00000407576.1:p.Val148Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.442G>A
  hgvsp: ENSP00000318406.3:p.Val148Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.442G>A
  hgvsp: ENSP00000420226.1:p.Val148Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.442G>A
  hgvsp: ENSP00000395883.2:p.Val148Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.363G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.442G>A
  hgvsp: ENSP00000420742.2:p.Val148Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.442G>A
  hgvsp: ENSP00000420369.1:p.Val148Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27624G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.442G>A
  hgvsp: ENSP00000419396.1:p.Val148Ile
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.32G>A
  hgvsp: ENSP00000393862.1:p.Val12Ile
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15121
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val148Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-35972438-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972438
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972438
    reference: chr 1
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27625T>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.441T>G
  hgvsp: ENSP00000419396.1:p.Asp147Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.31T>G
  hgvsp: ENSP00000393862.1:p.Asp11Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.441T>G
  hgvsp: ENSP00000318406.3:p.Asp147Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.441T>G
  hgvsp: ENSP00000420226.1:p.Asp147Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.441T>G
  hgvsp: ENSP00000395883.2:p.Asp147Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.441T>G
  hgvsp: ENSP00000420742.2:p.Asp147Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.362T>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.441T>G
  hgvsp: ENSP00000420369.1:p.Asp147Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.441T>G
  hgvsp: ENSP00000407576.1:p.Asp147Glu
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp147Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-35972440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972440
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972440
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.439G>A
  hgvsp: ENSP00000420226.1:p.Asp147Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.439G>A
  hgvsp: ENSP00000420369.1:p.Asp147Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.360G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.439G>A
  hgvsp: ENSP00000407576.1:p.Asp147Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.439G>A
  hgvsp: ENSP00000419396.1:p.Asp147Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.439G>A
  hgvsp: ENSP00000318406.3:p.Asp147Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.439G>A
  hgvsp: ENSP00000420742.2:p.Asp147Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.439G>A
  hgvsp: ENSP00000395883.2:p.Asp147Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27627G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.29G>A
  hgvsp: ENSP00000393862.1:p.Asp11Asn
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp147Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-35972467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972467
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972467
    reference: chr 1
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000393862
  ensembl transcript: ENST00000431916
  gene symbol: KIAA0319L
  hgvsc: ENST00000431916.1:c.2G>A
  hgvsp: ENSP00000393862.1:p.Asp2Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.412G>A
  hgvsp: ENSP00000420369.1:p.Asp138Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27654G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.412G>A
  hgvsp: ENSP00000318406.3:p.Asp138Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.412G>A
  hgvsp: ENSP00000419396.1:p.Asp138Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.412G>A
  hgvsp: ENSP00000420226.1:p.Asp138Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.412G>A
  hgvsp: ENSP00000407576.1:p.Asp138Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.412G>A
  hgvsp: ENSP00000420742.2:p.Asp138Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.333G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.412G>A
  hgvsp: ENSP00000395883.2:p.Asp138Asn
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp138Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-35972486-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972486
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972486
    reference: chr 1
allele count: 3
allele frequency: 2.475329218786098e-5
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.393A>T
  hgvsp: ENSP00000318406.3:p.Leu131Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.393A>T
  hgvsp: ENSP00000420742.2:p.Leu131Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.393A>T
  hgvsp: ENSP00000420226.1:p.Leu131Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.393A>T
  hgvsp: ENSP00000395883.2:p.Leu131Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.393A>T
  hgvsp: ENSP00000407576.1:p.Leu131Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.314A>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27673A>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.393A>T
  hgvsp: ENSP00000420369.1:p.Leu131Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.393A>T
  hgvsp: ENSP00000419396.1:p.Leu131Phe
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu131Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-35972487-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972487
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972487
    reference: chr 1
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.392T>A
  hgvsp: ENSP00000395883.2:p.Leu131Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.392T>A
  hgvsp: ENSP00000420742.2:p.Leu131Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.392T>A
  hgvsp: ENSP00000419396.1:p.Leu131Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.392T>A
  hgvsp: ENSP00000420369.1:p.Leu131Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.392T>A
  hgvsp: ENSP00000318406.3:p.Leu131Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27674T>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.392T>A
  hgvsp: ENSP00000420226.1:p.Leu131Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.313T>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.392T>A
  hgvsp: ENSP00000407576.1:p.Leu131Ter
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu131Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-35972491-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972491
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972491
    reference: chr 1
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27678T>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.309T>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.388T>G
  hgvsp: ENSP00000420742.2:p.Phe130Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.388T>G
  hgvsp: ENSP00000318406.3:p.Phe130Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.388T>G
  hgvsp: ENSP00000395883.2:p.Phe130Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.388T>G
  hgvsp: ENSP00000420226.1:p.Phe130Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.388T>G
  hgvsp: ENSP00000407576.1:p.Phe130Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.388T>G
  hgvsp: ENSP00000420369.1:p.Phe130Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.388T>G
  hgvsp: ENSP00000419396.1:p.Phe130Val
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe130Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/1-35972495-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972495
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972495
    reference: chr 1
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.384G>T
  hgvsp: ENST00000469892.1:c.384G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27682G>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.384G>T
  hgvsp: ENST00000325722.3:c.384G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.384G>T
  hgvsp: ENST00000482929.2:c.384G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.384G>T
  hgvsp: ENST00000494948.1:c.384G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.384G>T
  hgvsp: ENST00000426982.2:c.384G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.305G>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.384G>T
  hgvsp: ENST00000440579.1:c.384G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.384G>T
  hgvsp: ENST00000478463.2:c.384G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu128Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

1-35972500-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972500
    reference: chr 1
allele count: 2
allele frequency: 1.653165812530997e-5
allele num: 120980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.379A>G
  hgvsp: ENSP00000420742.2:p.Met127Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.379A>G
  hgvsp: ENSP00000419396.1:p.Met127Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.379A>G
  hgvsp: ENSP00000318406.3:p.Met127Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.379A>G
  hgvsp: ENSP00000395883.2:p.Met127Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.379A>G
  hgvsp: ENSP00000420369.1:p.Met127Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.300A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.379A>G
  hgvsp: ENSP00000407576.1:p.Met127Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.379A>G
  hgvsp: ENSP00000420226.1:p.Met127Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27687A>G
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23897
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met127Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-35972504-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972504
    reference: chr 1
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27691T>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.296T>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.375T>G
  hgvsp: ENSP00000419396.1:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.375T>G
  hgvsp: ENSP00000407576.1:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.375T>G
  hgvsp: ENSP00000318406.3:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.375T>G
  hgvsp: ENSP00000420226.1:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.375T>G
  hgvsp: ENSP00000420742.2:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.375T>G
  hgvsp: ENSP00000395883.2:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.375T>G
  hgvsp: ENSP00000420369.1:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23896
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn125Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

1-35972504-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972504
    reference: chr 1
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.375T>A
  hgvsp: ENSP00000395883.2:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.375T>A
  hgvsp: ENSP00000407576.1:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.375T>A
  hgvsp: ENSP00000420369.1:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.296T>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.375T>A
  hgvsp: ENSP00000420742.2:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.375T>A
  hgvsp: ENSP00000419396.1:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27691T>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.375T>A
  hgvsp: ENSP00000420226.1:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.375T>A
  hgvsp: ENSP00000318406.3:p.Asn125Lys
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn125Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

1-35972514-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972514
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972514
    reference: chr 1
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.365A>C
  hgvsp: ENSP00000420226.1:p.His122Pro
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.365A>C
  hgvsp: ENSP00000318406.3:p.His122Pro
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.286A>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.365A>C
  hgvsp: ENSP00000407576.1:p.His122Pro
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.365A>C
  hgvsp: ENSP00000395883.2:p.His122Pro
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.365A>C
  hgvsp: ENSP00000420369.1:p.His122Pro
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.365A>C
  hgvsp: ENSP00000420742.2:p.His122Pro
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.365A>C
  hgvsp: ENSP00000419396.1:p.His122Pro
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27701A>C
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His122Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-35972515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972515
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972515
    reference: chr 1
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.364C>T
  hgvsp: ENSP00000420369.1:p.His122Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27702C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.364C>T
  hgvsp: ENSP00000420742.2:p.His122Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.364C>T
  hgvsp: ENSP00000419396.1:p.His122Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.364C>T
  hgvsp: ENSP00000395883.2:p.His122Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.364C>T
  hgvsp: ENSP00000420226.1:p.His122Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.285C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.364C>T
  hgvsp: ENSP00000407576.1:p.His122Tyr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.364C>T
  hgvsp: ENSP00000318406.3:p.His122Tyr
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His122Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

1-35972519-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972519
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972519
    reference: chr 1
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.360G>C
  hgvsp: ENSP00000420369.1:p.Arg120Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27706G>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.360G>C
  hgvsp: ENSP00000420226.1:p.Arg120Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.360G>C
  hgvsp: ENSP00000318406.3:p.Arg120Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.360G>C
  hgvsp: ENSP00000420742.2:p.Arg120Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.360G>C
  hgvsp: ENSP00000419396.1:p.Arg120Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.360G>C
  hgvsp: ENSP00000395883.2:p.Arg120Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.360G>C
  hgvsp: ENSP00000407576.1:p.Arg120Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.281G>C
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg120Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

1-35972520-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972520
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972520
    reference: chr 1
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.359G>A
  hgvsp: ENSP00000420369.1:p.Arg120Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.359G>A
  hgvsp: ENSP00000419396.1:p.Arg120Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.359G>A
  hgvsp: ENSP00000395883.2:p.Arg120Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.280G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.359G>A
  hgvsp: ENSP00000420742.2:p.Arg120Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.359G>A
  hgvsp: ENSP00000318406.3:p.Arg120Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.359G>A
  hgvsp: ENSP00000420226.1:p.Arg120Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27707G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.359G>A
  hgvsp: ENSP00000407576.1:p.Arg120Lys
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg120Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-35972530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972530
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972530
    reference: chr 1
allele count: 6
allele frequency: 5.0e-5
allele num: 120000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.349C>T
  hgvsp: ENSP00000420742.2:p.Arg117Trp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.349C>T
  hgvsp: ENSP00000419396.1:p.Arg117Trp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.349C>T
  hgvsp: ENSP00000407576.1:p.Arg117Trp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.349C>T
  hgvsp: ENSP00000395883.2:p.Arg117Trp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27717C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.349C>T
  hgvsp: ENSP00000420369.1:p.Arg117Trp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.270C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.349C>T
  hgvsp: ENSP00000420226.1:p.Arg117Trp
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.349C>T
  hgvsp: ENSP00000318406.3:p.Arg117Trp
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg117Trp
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-35972543-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972543
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972543
    reference: chr 1
allele count: 1
allele frequency: 8.359945827551038e-6
allele num: 119618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.336G>A
  hgvsp: ENST00000426982.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.336G>A
  hgvsp: ENST00000440579.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.336G>A
  hgvsp: ENST00000469892.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.336G>A
  hgvsp: ENST00000494948.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27730G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.257G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.336G>A
  hgvsp: ENST00000325722.3:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.336G>A
  hgvsp: ENST00000478463.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.336G>A
  hgvsp: ENST00000482929.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg112Arg
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-35972555-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972555
    reference: chr 1
allele count: 4
allele frequency: 3.357281944537702e-5
allele num: 119144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.324A>T
  hgvsp: ENST00000478463.2:c.324A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.245A>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.324A>T
  hgvsp: ENST00000482929.2:c.324A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.324A>T
  hgvsp: ENST00000426982.2:c.324A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.324A>T
  hgvsp: ENST00000494948.1:c.324A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.324A>T
  hgvsp: ENST00000325722.3:c.324A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.324A>T
  hgvsp: ENST00000469892.1:c.324A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.324A>T
  hgvsp: ENST00000440579.1:c.324A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27742A>T
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala108Ala
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: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-35972563-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972563
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972563
    reference: chr 1
allele count: 3
allele frequency: 2.526869040800512e-5
allele num: 118724
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.316A>G
  hgvsp: ENSP00000318406.3:p.Ile106Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.316A>G
  hgvsp: ENSP00000419396.1:p.Ile106Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.316A>G
  hgvsp: ENSP00000420742.2:p.Ile106Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.316A>G
  hgvsp: ENSP00000395883.2:p.Ile106Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.316A>G
  hgvsp: ENSP00000407576.1:p.Ile106Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.237A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.316A>G
  hgvsp: ENSP00000420369.1:p.Ile106Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.316A>G
  hgvsp: ENSP00000420226.1:p.Ile106Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27750A>G
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile106Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

1-35972563-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972563
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972563
    reference: chr 1
allele count: 1
allele frequency: 8.422896802668375e-6
allele num: 118724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.316A>C
  hgvsp: ENSP00000407576.1:p.Ile106Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.316A>C
  hgvsp: ENSP00000318406.3:p.Ile106Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.237A>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.316A>C
  hgvsp: ENSP00000419396.1:p.Ile106Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.316A>C
  hgvsp: ENSP00000420226.1:p.Ile106Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.316A>C
  hgvsp: ENSP00000420369.1:p.Ile106Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.316A>C
  hgvsp: ENSP00000420742.2:p.Ile106Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27750A>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.316A>C
  hgvsp: ENSP00000395883.2:p.Ile106Leu
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile106Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

1-35972568-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972568
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972568
    reference: chr 1
allele count: 41
allele frequency: 3.460791761627416e-4
allele num: 118470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.311T>C
  hgvsp: ENSP00000420369.1:p.Met104Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.311T>C
  hgvsp: ENSP00000318406.3:p.Met104Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.311T>C
  hgvsp: ENSP00000419396.1:p.Met104Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27755T>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.311T>C
  hgvsp: ENSP00000395883.2:p.Met104Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.311T>C
  hgvsp: ENSP00000420226.1:p.Met104Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.232T>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.311T>C
  hgvsp: ENSP00000407576.1:p.Met104Thr
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.311T>C
  hgvsp: ENSP00000420742.2:p.Met104Thr
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9447
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met104Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

1-35972569-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972569
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972569
    reference: chr 1
allele count: 1
allele frequency: 8.445375312478886e-6
allele num: 118408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.310A>G
  hgvsp: ENSP00000420742.2:p.Met104Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27756A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.310A>G
  hgvsp: ENSP00000420369.1:p.Met104Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.310A>G
  hgvsp: ENSP00000395883.2:p.Met104Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.310A>G
  hgvsp: ENSP00000420226.1:p.Met104Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.231A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.310A>G
  hgvsp: ENSP00000419396.1:p.Met104Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.310A>G
  hgvsp: ENSP00000407576.1:p.Met104Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.310A>G
  hgvsp: ENSP00000318406.3:p.Met104Val
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met104Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

1-35972570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972570
    reference: chr 1
allele count: 1
allele frequency: 8.460236886632826e-6
allele num: 118200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.309G>A
  hgvsp: ENST00000426982.2:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.309G>A
  hgvsp: ENST00000325722.3:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.309G>A
  hgvsp: ENST00000482929.2:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.309G>A
  hgvsp: ENST00000494948.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.309G>A
  hgvsp: ENST00000478463.2:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.230G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.309G>A
  hgvsp: ENST00000469892.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.309G>A
  hgvsp: ENST00000440579.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27757G>A
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly103Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-35972571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972571
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972571
    reference: chr 1
allele count: 1
allele frequency: 8.460380040271409e-6
allele num: 118198
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.308G>A
  hgvsp: ENSP00000318406.3:p.Gly103Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.308G>A
  hgvsp: ENSP00000395883.2:p.Gly103Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.308G>A
  hgvsp: ENSP00000407576.1:p.Gly103Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27758G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.308G>A
  hgvsp: ENSP00000420226.1:p.Gly103Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.308G>A
  hgvsp: ENSP00000420369.1:p.Gly103Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.308G>A
  hgvsp: ENSP00000420742.2:p.Gly103Glu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.229G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.308G>A
  hgvsp: ENSP00000419396.1:p.Gly103Glu
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly103Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-35972587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972587
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972587
    reference: chr 1
allele count: 1
allele frequency: 8.51643672287515e-6
allele num: 117420
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.292T>C
  hgvsp: ENSP00000420369.1:p.Phe98Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.213T>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27774T>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.292T>C
  hgvsp: ENSP00000318406.3:p.Phe98Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.292T>C
  hgvsp: ENSP00000407576.1:p.Phe98Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.292T>C
  hgvsp: ENSP00000420742.2:p.Phe98Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.292T>C
  hgvsp: ENSP00000420226.1:p.Phe98Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.292T>C
  hgvsp: ENSP00000419396.1:p.Phe98Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.292T>C
  hgvsp: ENSP00000395883.2:p.Phe98Leu
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23854
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe98Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

1-35972609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972609
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972609
    reference: chr 1
allele count: 1
allele frequency: 8.620541025154739e-6
allele num: 116002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.270C>T
  hgvsp: ENST00000494948.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.270C>T
  hgvsp: ENST00000469892.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.270C>T
  hgvsp: ENST00000478463.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.270C>T
  hgvsp: ENST00000426982.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.191C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.270C>T
  hgvsp: ENST00000482929.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.270C>T
  hgvsp: ENST00000325722.3:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.270C>T
  hgvsp: ENST00000440579.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27796C>T
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys90Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

1-35972629-A-ACTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972629
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972632
    reference: chr 1
allele count: 1
allele frequency: 8.73774531219964e-6
allele num: 114446
alternate allele: ACTT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.249_250insAAG
  hgvsp: ENSP00000407576.1:p.Gln83_Ser84insLys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.249_250insAAG
  hgvsp: ENSP00000318406.3:p.Gln83_Ser84insLys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.249_250insAAG
  hgvsp: ENSP00000420369.1:p.Gln83_Ser84insLys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.170_171insAAG
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.249_250insAAG
  hgvsp: ENSP00000395883.2:p.Gln83_Ser84insLys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.249_250insAAG
  hgvsp: ENSP00000420226.1:p.Gln83_Ser84insLys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.249_250insAAG
  hgvsp: ENSP00000420742.2:p.Gln83_Ser84insLys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27817_143-27816insAAG
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.249_250insAAG
  hgvsp: ENSP00000419396.1:p.Gln83_Ser84insLys
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln83_Ser84insLys
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

1-35972631-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972631
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972631
    reference: chr 1
allele count: 1
allele frequency: 8.756260726419389e-6
allele num: 114204
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.248A>G
  hgvsp: ENSP00000318406.3:p.Gln83Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.248A>G
  hgvsp: ENSP00000420226.1:p.Gln83Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.169A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.248A>G
  hgvsp: ENSP00000420369.1:p.Gln83Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27818A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.248A>G
  hgvsp: ENSP00000395883.2:p.Gln83Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.248A>G
  hgvsp: ENSP00000419396.1:p.Gln83Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.248A>G
  hgvsp: ENSP00000420742.2:p.Gln83Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.248A>G
  hgvsp: ENSP00000407576.1:p.Gln83Arg
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln83Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-35972632-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972632
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972632
    reference: chr 1
allele count: 1
allele frequency: 8.781944322472995e-6
allele num: 113870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.247C>A
  hgvsp: ENSP00000407576.1:p.Gln83Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27819C>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.247C>A
  hgvsp: ENSP00000395883.2:p.Gln83Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.247C>A
  hgvsp: ENSP00000420369.1:p.Gln83Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.247C>A
  hgvsp: ENSP00000419396.1:p.Gln83Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.247C>A
  hgvsp: ENSP00000420742.2:p.Gln83Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.247C>A
  hgvsp: ENSP00000420226.1:p.Gln83Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.247C>A
  hgvsp: ENSP00000318406.3:p.Gln83Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.168C>A
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln83Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-35972634-AGAGAGGGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972634
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972626
    reference: chr 1
allele count: 1
allele frequency: 8.778860503906592e-6
allele num: 113910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.237_244delCCCCTCTC
  hgvsp: ENSP00000407576.1:p.Ser81ValfsTer37
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.237_244delCCCCTCTC
  hgvsp: ENSP00000395883.2:p.Ser81ValfsTer37
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.158_165delCCCCTCTC
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.237_244delCCCCTCTC
  hgvsp: ENSP00000419396.1:p.Ser81ValfsTer37
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.237_244delCCCCTCTC
  hgvsp: ENSP00000318406.3:p.Ser81ValfsTer37
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.237_244delCCCCTCTC
  hgvsp: ENSP00000420742.2:p.Ser81ValfsTer37
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.237_244delCCCCTCTC
  hgvsp: ENSP00000420369.1:p.Ser81ValfsTer37
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.237_244delCCCCTCTC
  hgvsp: ENSP00000420226.1:p.Ser81ValfsTer37
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser81ValfsTer37
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: AGAGAGGGG
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

1-35972635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972635
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972635
    reference: chr 1
allele count: 3
allele frequency: 2.634583296741899e-5
allele num: 113870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.244C>T
  hgvsp: ENSP00000395883.2:p.Leu82Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.244C>T
  hgvsp: ENSP00000420226.1:p.Leu82Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.165C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.244C>T
  hgvsp: ENSP00000407576.1:p.Leu82Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.244C>T
  hgvsp: ENSP00000318406.3:p.Leu82Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.244C>T
  hgvsp: ENSP00000420369.1:p.Leu82Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.244C>T
  hgvsp: ENSP00000420742.2:p.Leu82Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.244C>T
  hgvsp: ENSP00000419396.1:p.Leu82Phe
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27822C>T
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23841
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu82Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-35972635-GAGAGGGGGTTCCTTCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972635
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972619
    reference: chr 1
allele count: 1
allele frequency: 8.781944322472995e-6
allele num: 113870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsp: ENSP00000419396.1:p.Glu77SerfsTer20
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsp: ENSP00000407576.1:p.Glu77SerfsTer20
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsp: ENSP00000420369.1:p.Glu77SerfsTer20
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsp: ENSP00000420742.2:p.Glu77SerfsTer20
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsp: ENSP00000318406.3:p.Glu77SerfsTer20
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsp: ENSP00000395883.2:p.Glu77SerfsTer20
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsp: ENSP00000420226.1:p.Glu77SerfsTer20
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23841
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu77SerfsTer20
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: GAGAGGGGGTTCCTTCA
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-35972640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972640
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972640
    reference: chr 1
allele count: 7
allele frequency: 6.168814001445265e-5
allele num: 113474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.160C>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.239C>T
  hgvsp: ENSP00000420369.1:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.239C>T
  hgvsp: ENSP00000420226.1:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.239C>T
  hgvsp: ENSP00000420742.2:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.239C>T
  hgvsp: ENSP00000407576.1:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.239C>T
  hgvsp: ENSP00000318406.3:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.239C>T
  hgvsp: ENSP00000395883.2:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.239C>T
  hgvsp: ENSP00000419396.1:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27827C>T
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro80Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-35972643-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972643
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972643
    reference: chr 1
allele count: 1
allele frequency: 8.84830466482622e-6
allele num: 113016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27830C>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.236C>A
  hgvsp: ENSP00000420226.1:p.Thr79Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.236C>A
  hgvsp: ENSP00000419396.1:p.Thr79Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.236C>A
  hgvsp: ENSP00000420369.1:p.Thr79Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.157C>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.236C>A
  hgvsp: ENSP00000395883.2:p.Thr79Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.236C>A
  hgvsp: ENSP00000420742.2:p.Thr79Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.236C>A
  hgvsp: ENSP00000407576.1:p.Thr79Asn
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.236C>A
  hgvsp: ENSP00000318406.3:p.Thr79Asn
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr79Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-35972657-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972657
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972657
    reference: chr 1
allele count: 2
allele frequency: 1.796364158942301e-5
allele num: 111336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.222G>T
  hgvsp: ENSP00000420226.1:p.Trp74Cys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.222G>T
  hgvsp: ENSP00000420369.1:p.Trp74Cys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27844G>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.222G>T
  hgvsp: ENSP00000407576.1:p.Trp74Cys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.222G>T
  hgvsp: ENSP00000318406.3:p.Trp74Cys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.222G>T
  hgvsp: ENSP00000395883.2:p.Trp74Cys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.222G>T
  hgvsp: ENSP00000420742.2:p.Trp74Cys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.222G>T
  hgvsp: ENSP00000419396.1:p.Trp74Cys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.143G>T
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp74Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-35972658-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972658
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972658
    reference: chr 1
allele count: 1
allele frequency: 8.98763301696865e-6
allele num: 111264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27845G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.221G>A
  hgvsp: ENSP00000419396.1:p.Trp74Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.221G>A
  hgvsp: ENSP00000407576.1:p.Trp74Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.221G>A
  hgvsp: ENSP00000420742.2:p.Trp74Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.221G>A
  hgvsp: ENSP00000420369.1:p.Trp74Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.142G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.221G>A
  hgvsp: ENSP00000420226.1:p.Trp74Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.221G>A
  hgvsp: ENSP00000395883.2:p.Trp74Ter
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.221G>A
  hgvsp: ENSP00000318406.3:p.Trp74Ter
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp74Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-35972659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972659
    reference: chr 1
allele count: 3
allele frequency: 2.69774468544297e-5
allele num: 111204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.220T>C
  hgvsp: ENSP00000407576.1:p.Trp74Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.220T>C
  hgvsp: ENSP00000318406.3:p.Trp74Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.220T>C
  hgvsp: ENSP00000420742.2:p.Trp74Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.220T>C
  hgvsp: ENSP00000419396.1:p.Trp74Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.220T>C
  hgvsp: ENSP00000395883.2:p.Trp74Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.220T>C
  hgvsp: ENSP00000420226.1:p.Trp74Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.220T>C
  hgvsp: ENSP00000420369.1:p.Trp74Arg
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.141T>C
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27846T>C
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp74Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-35972673-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972673
    reference: chr 1
allele count: 1
allele frequency: 9.082487148280686e-6
allele num: 110102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.206G>T
  hgvsp: ENSP00000420226.1:p.Gly69Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.206G>T
  hgvsp: ENSP00000420369.1:p.Gly69Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.206G>T
  hgvsp: ENSP00000395883.2:p.Gly69Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.206G>T
  hgvsp: ENSP00000420742.2:p.Gly69Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27860G>T
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.206G>T
  hgvsp: ENSP00000318406.3:p.Gly69Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.206G>T
  hgvsp: ENSP00000419396.1:p.Gly69Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.206G>T
  hgvsp: ENSP00000407576.1:p.Gly69Val
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.127G>T
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly69Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

1-35972682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972682
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972682
    reference: chr 1
allele count: 1
allele frequency: 9.148461228821313e-6
allele num: 109308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.197G>A
  hgvsp: ENSP00000318406.3:p.Arg66Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.118G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.197G>A
  hgvsp: ENSP00000419396.1:p.Arg66Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.197G>A
  hgvsp: ENSP00000395883.2:p.Arg66Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.197G>A
  hgvsp: ENSP00000420226.1:p.Arg66Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.197G>A
  hgvsp: ENSP00000407576.1:p.Arg66Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.197G>A
  hgvsp: ENSP00000420369.1:p.Arg66Lys
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27869G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.197G>A
  hgvsp: ENSP00000420742.2:p.Arg66Lys
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg66Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

1-35972689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972689
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972689
    reference: chr 1
allele count: 1
allele frequency: 9.15650294839395e-6
allele num: 109212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.111G>A
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.190G>A
  hgvsp: ENSP00000318406.3:p.Gly64Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.190G>A
  hgvsp: ENSP00000395883.2:p.Gly64Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.190G>A
  hgvsp: ENSP00000420226.1:p.Gly64Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.190G>A
  hgvsp: ENSP00000420742.2:p.Gly64Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.190G>A
  hgvsp: ENSP00000420369.1:p.Gly64Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.190G>A
  hgvsp: ENSP00000419396.1:p.Gly64Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.190G>A
  hgvsp: ENSP00000407576.1:p.Gly64Ser
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27876G>A
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly64Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-35972699-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972699
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972699
    reference: chr 1
allele count: 1
allele frequency: 9.176332403464983e-6
allele num: 108976
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.180A>G
  hgvsp: ENST00000325722.3:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.180A>G
  hgvsp: ENST00000482929.2:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.180A>G
  hgvsp: ENST00000469892.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.180A>G
  hgvsp: ENST00000494948.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142687
  ensembl transcript: ENST00000492888
  gene symbol: KIAA0319L
  hgvsc: ENST00000492888.1:n.101A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27886A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.180A>G
  hgvsp: ENST00000478463.2:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.180A>G
  hgvsp: ENST00000426982.2:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.180A>G
  hgvsp: ENST00000440579.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23831
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln60Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-35972702-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35972702
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 35972702
    reference: chr 1
allele count: 3
allele frequency: 2.756795500909743e-5
allele num: 108822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420226
  ensembl transcript: ENST00000494948
  gene symbol: KIAA0319L
  hgvsc: ENST00000494948.1:c.177A>G
  hgvsp: ENST00000494948.1:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000419396
  ensembl transcript: ENST00000469892
  gene symbol: KIAA0319L
  hgvsc: ENST00000469892.1:c.177A>G
  hgvsp: ENST00000469892.1:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000407576
  ensembl transcript: ENST00000440579
  gene symbol: KIAA0319L
  hgvsc: ENST00000440579.1:c.177A>G
  hgvsp: ENST00000440579.1:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000417411
  ensembl transcript: ENST00000470388
  gene symbol: KIAA0319L
  hgvsc: ENST00000470388.1:c.143-27889A>G
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000318406
  ensembl transcript: ENST00000325722
  gene symbol: KIAA0319L
  hgvsc: ENST00000325722.3:c.177A>G
  hgvsp: ENST00000325722.3:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420742
  ensembl transcript: ENST00000482929
  gene symbol: KIAA0319L
  hgvsc: ENST00000482929.2:c.177A>G
  hgvsp: ENST00000482929.2:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000395883
  ensembl transcript: ENST00000426982
  gene symbol: KIAA0319L
  hgvsc: ENST00000426982.2:c.177A>G
  hgvsp: ENST00000426982.2:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142687
  ensembl protein: ENSP00000420369
  ensembl transcript: ENST00000478463
  gene symbol: KIAA0319L
  hgvsc: ENST00000478463.2:c.177A>G
  hgvsp: ENST00000478463.2:c.177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30071
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Thr59Thr
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 4015
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
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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

European (Finnish)
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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

South Asian
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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

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: 1.654334356012753e-4
allele num: 66492
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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DP
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: 1.55e-2

MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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SIO_000300: 1.77e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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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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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66590
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African
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
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Other
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QD
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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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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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
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num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 4
allele frequency: 6.00294144130624e-5
allele num: 66634
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: -3.02e-1

DP
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BaseQRankSum
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FS
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MQRankSum
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SIO_000300: 9.4e-2

MQ
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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 num: 66638
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East Asian
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Other
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African
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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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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GenotypeQuality
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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

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

East Asian
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South Asian
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African
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European (Non-Finnish)
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Other
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Latino
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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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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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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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
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: 66720
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
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.81e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
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SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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QD
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SIO_000300: 1.433e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

DP
type: SiteQuality
SIO_000300: 2.387255e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 2.387014e6

FS
type: SiteQuality
SIO_000300: 1.414e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.347e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66732
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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

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

MQRankSum
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SIO_000300: -7.25e-1

QD
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SIO_000300: 1.517e1

ReadPosRankSum
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SIO_000300: 6.28e-1

VQSLOD
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SIO_000300: -1.046e0

ClippingRankSum
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SIO_000300: 1.1e-2

BaseQRankSum
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SIO_000300: -4.634e0

FS
type: SiteQuality
SIO_000300: 1.0688e1

DP
type: SiteQuality
SIO_000300: 2.387044e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
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: 8650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.387102e6

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

VQSLOD
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SIO_000300: 1.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.055e0

FS
type: SiteQuality
SIO_000300: 2.844e0

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
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allele count: 4
allele frequency: 5.993586862057598e-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
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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 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: 8650
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

DP
type: SiteQuality
SIO_000300: 2.387297e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.469e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.094e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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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Other
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East Asian
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allele frequency: 1.15606936416185e-4
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African
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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FS
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MQRankSum
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DP
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MQ
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SIO_000300: 6.0e1

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

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

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

East Asian
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Other
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Latino
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African
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European (Non-Finnish)
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allele num: 66736
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South Asian
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MQ
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BaseQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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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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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.637e0

DP
type: SiteQuality
SIO_000300: 2.38685e6

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
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SIO_000300: -2.2e0

FS
type: SiteQuality
SIO_000300: 6.913e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: -2.821e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
all individuals: 23916
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 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: 908
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.387084e6

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

FS
type: SiteQuality
SIO_000300: 7.022e0

QD
type: SiteQuality
SIO_000300: 1.441e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.191e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
all individuals: 4020
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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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 6
allele frequency: 5.765904285988853e-4
allele num: 10406
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: 908
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

QD
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SIO_000300: 1.273e1

VQSLOD
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SIO_000300: 2.04e0

BaseQRankSum
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SIO_000300: -2.464e0

FS
type: SiteQuality
SIO_000300: 1.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.387059e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

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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variant carriers: 1

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: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
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: 908
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: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.387003e6

VQSLOD
type: SiteQuality
SIO_000300: -1.736e0

FS
type: SiteQuality
SIO_000300: 2.197e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.895e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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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: 1

GenotypeQuality
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bin: 3.75e1
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: 66736
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: 11572
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: -7.987e-1

ReadPosRankSum
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 1.005e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.06e-1

BaseQRankSum
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SIO_000300: -4.319e0

QD
type: SiteQuality
SIO_000300: 1.903e1

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
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: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

MQRankSum
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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SIO_000300: 5.72e-1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 5.285e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

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

European (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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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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

East Asian
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allele count: 3
allele frequency: 3.469812630117973e-4
allele num: 8646
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
type: SiteQuality
SIO_000300: 2.387223e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 4.084e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.466e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.405e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.349e1

GenotypeQuality
all individuals: 3932
bin: 7.75e1
variant carriers: 0

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: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23909
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2252
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
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: 908
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

DP
type: SiteQuality
SIO_000300: 2.386983e6

QD
type: SiteQuality
SIO_000300: 1.31e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.085e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.189e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.725e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.178e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.882e1

DP
type: SiteQuality
SIO_000300: 2.387188e6

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-1

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.725e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.178e0

VQSLOD
type: SiteQuality
SIO_000300: -2.189e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 2.387188e6

MQ
type: SiteQuality
SIO_000300: 5.882e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.329e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

African
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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: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: -5.305e0

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

FS
type: SiteQuality
SIO_000300: 4.884e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.64e-1

DP
type: SiteQuality
SIO_000300: 2.386981e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.292e1

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
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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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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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 frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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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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GenotypeQuality
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GenotypeQuality
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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 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: 66728
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

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

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

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

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

Other
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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

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 count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
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SIO_000300: -3.7e-2

FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: -4.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.00390507659958e-5
allele num: 66580
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

FS
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: 8.91e-1

VQSLOD
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MQRankSum
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SIO_000300: 7.99e-1

ClippingRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: 8.129999999999999e-1

DP
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SIO_000300: 2.381834e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.04e1

VQSLOD
type: SiteQuality
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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DP
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SIO_000300: 2.381351e6

MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6612
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: 8644
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
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BaseQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 1.7054e1

VQSLOD
type: SiteQuality
SIO_000300: -2.312e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
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
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 1.808e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

ReadPosRankSum
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 2.377604e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.666e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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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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GenotypeQuality
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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
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
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African
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allele count: 0
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South Asian
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allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.03e-1

InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

African
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Other
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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 frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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DP
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.99e-1

MQ
type: SiteQuality
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ClippingRankSum
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MQRankSum
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QD
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DP
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VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 5.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

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

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

Latino
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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: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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MQ
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SIO_000300: 5.879e1

FS
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InbreedingCoeff
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SIO_000300: 1.5e-3

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.801999607920016e-5
allele num: 10202
num of homozygotes: 0

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

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

BaseQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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DP
type: SiteQuality
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QD
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MQRankSum
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SIO_000300: -1.28e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51290508033526e-5
allele num: 66098
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.361301e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

FS
type: SiteQuality
SIO_000300: 8.28e-1

BaseQRankSum
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SIO_000300: -1.781e0

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
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SIO_000300: -1.509e0

VQSLOD
type: SiteQuality
SIO_000300: -8.463000000000001e-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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GenotypeQuality
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GenotypeQuality
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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: 10132
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.105256768240864e-5
allele num: 65896
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 2.567e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
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SIO_000300: -3.46e-1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.351119e6

QD
type: SiteQuality
SIO_000300: 1.385e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

Other
type: Population
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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
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num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65706
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.343898e6

FS
type: SiteQuality
SIO_000300: 4.646e0

QD
type: SiteQuality
SIO_000300: 1.373e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.827e0

VQSLOD
type: SiteQuality
SIO_000300: -1.906e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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

Latino
type: Population
allele count: 3
allele frequency: 2.59920291110726e-4
allele num: 11542
num of homozygotes: 0

African
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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
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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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Other
type: Population
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allele num: 886
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South Asian
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allele count: 1
allele frequency: 6.236746912810279e-5
allele num: 16034
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQ
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

European (Finnish)
type: Population
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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.599674956303088e-5
allele num: 65222
num of homozygotes: 0

Other
type: Population
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African
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South Asian
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East Asian
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

African
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 4.768550825773436e-3
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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QD
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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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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African
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South Asian
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.539835545563734e-5
allele num: 64942
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South Asian
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allele frequency: 0.0e0
allele num: 15858
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Latino
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allele frequency: 0.0e0
allele num: 11538
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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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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FS
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SIO_000300: 4.106e0

MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 64954
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European (Finnish)
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South Asian
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East Asian
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Other
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MQ
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SIO_000300: 5.973e1

VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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InbreedingCoeff
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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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ReadPosRankSum
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FS
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VQSLOD
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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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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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European (Non-Finnish)
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African
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South Asian
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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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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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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Latino
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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FS
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MQRankSum
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QD
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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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bin: 1.75e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11516
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

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

East Asian
type: Population
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 848
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.574307304785894e-5
allele num: 63520
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
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MQRankSum
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SIO_000300: -1.498e0

BaseQRankSum
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SIO_000300: -3.058e0

MQ
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DP
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ReadPosRankSum
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SIO_000300: -1.256e0

InbreedingCoeff
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SIO_000300: -3.0e-4

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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GenotypeQuality
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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: 6606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63426
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African
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allele count: 1
allele frequency: 1.056189269117026e-4
allele num: 9468
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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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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East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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QD
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BaseQRankSum
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SIO_000300: -2.05e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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African
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allele frequency: 1.054629824931449e-4
allele num: 9482
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8584
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63432
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South Asian
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MQ
type: SiteQuality
SIO_000300: 5.361e1

VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6610
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

African
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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: 1
allele frequency: 7.459346561241235e-5
allele num: 13406
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 (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.15288331178863e-5
allele num: 63434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.275301e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

FS
type: SiteQuality
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MQ
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VQSLOD
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MQRankSum
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SIO_000300: -2.6e-2

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
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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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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: 11514
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.576441655894315e-5
allele num: 63434
num of homozygotes: 0

South Asian
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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: 6610
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 frequency: 0.0e0
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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

DP
type: SiteQuality
SIO_000300: 2.275301e6

FS
type: SiteQuality
SIO_000300: 1.164e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

InbreedingCoeff
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BaseQRankSum
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VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: -2.78e-1

GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6612
num of homozygotes: 0

Other
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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 63372
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Latino
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African
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FS
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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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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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

South Asian
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Other
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European (Non-Finnish)
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African
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East Asian
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Latino
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VQSLOD
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QD
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DP
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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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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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4656
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3792
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589370291490511e-5
allele num: 62918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.08e1

DP
type: SiteQuality
SIO_000300: 2.25919e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 294
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4179
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23836
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3974
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.500583430571762e-4
allele num: 8570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62914
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

MQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.966e0

DP
type: SiteQuality
SIO_000300: 2.259062e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3973
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9300
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23834
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
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: 798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10430
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.218e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.725e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.253819e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

FS
type: SiteQuality
SIO_000300: 3.532e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

GenotypeQuality
all individuals: 23833
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 251
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3465
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4187
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3796
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

MQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.767e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 2.248629e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
all individuals: 4002
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4178
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3978
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23832
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3793
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596373040452093e-5
allele num: 62642
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: 11462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.184e0

DP
type: SiteQuality
SIO_000300: 2.248001e6

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.88e-1

QD
type: SiteQuality
SIO_000300: 1.03e1

GenotypeQuality
all individuals: 2822
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3793
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9340
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2123
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4004
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3263
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3974
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62586
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.168e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.243956e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.319e1