3-47162449-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162449
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162449
    reference: chr 3
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3545C>T
  hgvsp: ENSP00000416401.1:p.Pro1182Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2577C>T
  hgvsp: ENSP00000411901.1:p.Pro860Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3677C>T
  hgvsp: ENSP00000386759.3:p.Pro1226Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3292C>T
  hgvsp: ENSP00000332415.7:p.Pro1098Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2829C>T
  hgvsp: ENSP00000388349.1:p.Pro944Leu
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1226Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

3-47162464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162464
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162464
    reference: chr 3
allele count: 3
allele frequency: 2.474634991338777e-5
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3530C>T
  hgvsp: ENSP00000416401.1:p.Thr1177Ile
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3277C>T
  hgvsp: ENSP00000332415.7:p.Thr1093Ile
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3662C>T
  hgvsp: ENSP00000386759.3:p.Thr1221Ile
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2562C>T
  hgvsp: ENSP00000411901.1:p.Thr855Ile
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2814C>T
  hgvsp: ENSP00000388349.1:p.Thr939Ile
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr1221Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum

3-47162465-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162465
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162465
    reference: chr 3
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3276A>G
  hgvsp: ENSP00000332415.7:p.Thr1093Ala
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3661A>G
  hgvsp: ENSP00000386759.3:p.Thr1221Ala
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2561A>G
  hgvsp: ENSP00000411901.1:p.Thr855Ala
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3529A>G
  hgvsp: ENSP00000416401.1:p.Thr1177Ala
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2813A>G
  hgvsp: ENSP00000388349.1:p.Thr939Ala
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr1221Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-47162467-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162467
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162467
    reference: chr 3
allele count: 5
allele frequency: 4.124187535055594e-5
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2811C>A
  hgvsp: ENSP00000388349.1:p.Thr938Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3527C>A
  hgvsp: ENSP00000416401.1:p.Thr1176Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3659C>A
  hgvsp: ENSP00000386759.3:p.Thr1220Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3274C>A
  hgvsp: ENSP00000332415.7:p.Thr1092Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2559C>A
  hgvsp: ENSP00000411901.1:p.Thr854Asn
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1220Asn
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

3-47162469-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162469
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162469
    reference: chr 3
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3657G>C
  hgvsp: ENSP00000386759.3:p.Gln1219His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3525G>C
  hgvsp: ENSP00000416401.1:p.Gln1175His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2557G>C
  hgvsp: ENSP00000411901.1:p.Gln853His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3272G>C
  hgvsp: ENSP00000332415.7:p.Gln1091His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2809G>C
  hgvsp: ENSP00000388349.1:p.Gln937His
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1219His
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: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/3-47162475-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162475
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162475
    reference: chr 3
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2803G>T
  hgvsp: ENSP00000388349.1:p.Trp935Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3651G>T
  hgvsp: ENSP00000386759.3:p.Trp1217Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3519G>T
  hgvsp: ENSP00000416401.1:p.Trp1173Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2551G>T
  hgvsp: ENSP00000411901.1:p.Trp851Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3266G>T
  hgvsp: ENSP00000332415.7:p.Trp1089Cys
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp1217Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-47162477-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162477
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162477
    reference: chr 3
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2549T>C
  hgvsp: ENSP00000411901.1:p.Trp851Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2801T>C
  hgvsp: ENSP00000388349.1:p.Trp935Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3264T>C
  hgvsp: ENSP00000332415.7:p.Trp1089Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3649T>C
  hgvsp: ENSP00000386759.3:p.Trp1217Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3517T>C
  hgvsp: ENSP00000416401.1:p.Trp1173Arg
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6462
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp1217Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

3-47162486-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162486
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162486
    reference: chr 3
allele count: 29
allele frequency: 2.392226090112682e-4
allele num: 121226
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3640A>G
  hgvsp: ENSP00000386759.3:p.Asn1214Asp
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2540A>G
  hgvsp: ENSP00000411901.1:p.Asn848Asp
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2792A>G
  hgvsp: ENSP00000388349.1:p.Asn932Asp
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3255A>G
  hgvsp: ENSP00000332415.7:p.Asn1086Asp
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3508A>G
  hgvsp: ENSP00000416401.1:p.Asn1170Asp
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn1214Asp
num of homozygotes: 3
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

3-47162488-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162488
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162488
    reference: chr 3
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3253C>G
  hgvsp: ENSP00000332415.7:p.Pro1085Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2790C>G
  hgvsp: ENSP00000388349.1:p.Pro931Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2538C>G
  hgvsp: ENSP00000411901.1:p.Pro847Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3638C>G
  hgvsp: ENSP00000386759.3:p.Pro1213Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3506C>G
  hgvsp: ENSP00000416401.1:p.Pro1169Arg
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1213Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

3-47162503-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162503
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162503
    reference: chr 3
allele count: 4
allele frequency: 3.299567756623883e-5
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2775A>G
  hgvsp: ENSP00000388349.1:p.Asp926Gly
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3623A>G
  hgvsp: ENSP00000386759.3:p.Asp1208Gly
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3491A>G
  hgvsp: ENSP00000416401.1:p.Asp1164Gly
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3238A>G
  hgvsp: ENSP00000332415.7:p.Asp1080Gly
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2523A>G
  hgvsp: ENSP00000411901.1:p.Asp842Gly
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6483
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp1208Gly
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

3-47162504-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162504
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162504
    reference: chr 3
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2522G>C
  hgvsp: ENSP00000411901.1:p.Asp842His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3237G>C
  hgvsp: ENSP00000332415.7:p.Asp1080His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3622G>C
  hgvsp: ENSP00000386759.3:p.Asp1208His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2774G>C
  hgvsp: ENSP00000388349.1:p.Asp926His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3490G>C
  hgvsp: ENSP00000416401.1:p.Asp1164His
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17997
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp1208His
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

3-47162505-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162505
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162505
    reference: chr 3
allele count: 6
allele frequency: 4.949269982677555e-5
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2521T>C
  hgvsp: ENST00000445387.1:c.2521T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2773T>C
  hgvsp: ENST00000431180.1:c.2773T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3236T>C
  hgvsp: ENST00000330022.7:c.3236T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3489T>C
  hgvsp: ENST00000412450.1:c.3489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3621T>C
  hgvsp: ENST00000409792.3:c.3621T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1207Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-47162512-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162512
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162512
    reference: chr 3
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3614A>G
  hgvsp: ENSP00000386759.3:p.Tyr1205Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3229A>G
  hgvsp: ENSP00000332415.7:p.Tyr1077Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3482A>G
  hgvsp: ENSP00000416401.1:p.Tyr1161Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2514A>G
  hgvsp: ENSP00000411901.1:p.Tyr839Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2766A>G
  hgvsp: ENSP00000388349.1:p.Tyr923Cys
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr1205Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-47162514-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162514
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162514
    reference: chr 3
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2512T>G
  hgvsp: ENSP00000411901.1:p.Ile838Met
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2764T>G
  hgvsp: ENSP00000388349.1:p.Ile922Met
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3612T>G
  hgvsp: ENSP00000386759.3:p.Ile1204Met
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3227T>G
  hgvsp: ENSP00000332415.7:p.Ile1076Met
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3480T>G
  hgvsp: ENSP00000416401.1:p.Ile1160Met
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile1204Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

3-47162516-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162516
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162516
    reference: chr 3
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3478A>G
  hgvsp: ENSP00000416401.1:p.Ile1160Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3225A>G
  hgvsp: ENSP00000332415.7:p.Ile1076Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3610A>G
  hgvsp: ENSP00000386759.3:p.Ile1204Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2762A>G
  hgvsp: ENSP00000388349.1:p.Ile922Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2510A>G
  hgvsp: ENSP00000411901.1:p.Ile838Val
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6493
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile1204Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-47162520-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162520
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162520
    reference: chr 3
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2758G>C
  hgvsp: ENST00000431180.1:c.2758G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3221G>C
  hgvsp: ENST00000330022.7:c.3221G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2506G>C
  hgvsp: ENST00000445387.1:c.2506G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3474G>C
  hgvsp: ENST00000412450.1:c.3474G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3606G>C
  hgvsp: ENST00000409792.3:c.3606G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18016
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1202Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/3-47162520-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162520
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162519
    reference: chr 3
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3473delT
  hgvsp: ENSP00000416401.1:p.Leu1158ArgfsTer34
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3605delT
  hgvsp: ENSP00000386759.3:p.Leu1202ArgfsTer34
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2757delT
  hgvsp: ENSP00000388349.1:p.Leu920ArgfsTer34
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2505delT
  hgvsp: ENSP00000411901.1:p.Leu836ArgfsTer34
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3220delT
  hgvsp: ENSP00000332415.7:p.Leu1074ArgfsTer34
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu1202ArgfsTer34
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: CA
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-47162521-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162521
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162521
    reference: chr 3
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2505T>C
  hgvsp: ENSP00000411901.1:p.Leu836Pro
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3605T>C
  hgvsp: ENSP00000386759.3:p.Leu1202Pro
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3473T>C
  hgvsp: ENSP00000416401.1:p.Leu1158Pro
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2757T>C
  hgvsp: ENSP00000388349.1:p.Leu920Pro
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3220T>C
  hgvsp: ENSP00000332415.7:p.Leu1074Pro
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu1202Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-47162525-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162525
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162525
    reference: chr 3
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3601G>C
  hgvsp: ENSP00000386759.3:p.Glu1201Gln
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3216G>C
  hgvsp: ENSP00000332415.7:p.Glu1073Gln
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2501G>C
  hgvsp: ENSP00000411901.1:p.Glu835Gln
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2753G>C
  hgvsp: ENSP00000388349.1:p.Glu919Gln
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3469G>C
  hgvsp: ENSP00000416401.1:p.Glu1157Gln
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8416
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu1201Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

3-47162540-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162540
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162540
    reference: chr 3
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2486T>C
  hgvsp: ENSP00000411901.1:p.Ser830Pro
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3454T>C
  hgvsp: ENSP00000416401.1:p.Ser1152Pro
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3201T>C
  hgvsp: ENSP00000332415.7:p.Ser1068Pro
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3586T>C
  hgvsp: ENSP00000386759.3:p.Ser1196Pro
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2738T>C
  hgvsp: ENSP00000388349.1:p.Ser914Pro
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30369
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser1196Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

3-47162546-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162546
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162546
    reference: chr 3
allele count: 3
allele frequency: 2.475451769948015e-5
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3580A>G
  hgvsp: ENSP00000386759.3:p.Ile1194Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3448A>G
  hgvsp: ENSP00000416401.1:p.Ile1150Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2480A>G
  hgvsp: ENSP00000411901.1:p.Ile828Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3195A>G
  hgvsp: ENSP00000332415.7:p.Ile1066Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2732A>G
  hgvsp: ENSP00000388349.1:p.Ile912Val
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8418
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile1194Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

3-47162559-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162559
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162559
    reference: chr 3
allele count: 128
allele frequency: 1.056297347703379e-3
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2467C>T
  hgvsp: ENST00000445387.1:c.2467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3182C>T
  hgvsp: ENST00000330022.7:c.3182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3435C>T
  hgvsp: ENST00000412450.1:c.3435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3567C>T
  hgvsp: ENST00000409792.3:c.3567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2719C>T
  hgvsp: ENST00000431180.1:c.2719C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24864
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr1189Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

3-47162560-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162560
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162560
    reference: chr 3
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3566C>T
  hgvsp: ENSP00000386759.3:p.Thr1189Ile
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3181C>T
  hgvsp: ENSP00000332415.7:p.Thr1061Ile
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3434C>T
  hgvsp: ENSP00000416401.1:p.Thr1145Ile
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2718C>T
  hgvsp: ENSP00000388349.1:p.Thr907Ile
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2466C>T
  hgvsp: ENSP00000411901.1:p.Thr823Ile
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1189Ile
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

3-47162582-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162582
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162582
    reference: chr 3
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3159G>C
  hgvsp: ENSP00000332415.7:p.Gly1054Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2696G>C
  hgvsp: ENSP00000388349.1:p.Gly900Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2444G>C
  hgvsp: ENSP00000411901.1:p.Gly816Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3544G>C
  hgvsp: ENSP00000386759.3:p.Gly1182Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3412G>C
  hgvsp: ENSP00000416401.1:p.Gly1138Arg
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly1182Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

3-47162593-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162593
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162593
    reference: chr 3
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2685C>A
  hgvsp: ENSP00000388349.1:p.Ser896Tyr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2433C>A
  hgvsp: ENSP00000411901.1:p.Ser812Tyr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3533C>A
  hgvsp: ENSP00000386759.3:p.Ser1178Tyr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3148C>A
  hgvsp: ENSP00000332415.7:p.Ser1050Tyr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3401C>A
  hgvsp: ENSP00000416401.1:p.Ser1134Tyr
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1178Tyr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

3-47162608-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162608
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162608
    reference: chr 3
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2670A>G
  hgvsp: ENSP00000388349.1:p.His891Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3518A>G
  hgvsp: ENSP00000386759.3:p.His1173Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2418A>G
  hgvsp: ENSP00000411901.1:p.His807Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3386A>G
  hgvsp: ENSP00000416401.1:p.His1129Arg
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3133A>G
  hgvsp: ENSP00000332415.7:p.His1045Arg
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His1173Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ

3-47162616-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162616
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162616
    reference: chr 3
allele count: 2
allele frequency: 1.650846058605035e-5
allele num: 121150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3125T>C
  hgvsp: ENST00000330022.7:c.3125T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2410T>C
  hgvsp: ENST00000445387.1:c.2410T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2662T>C
  hgvsp: ENST00000431180.1:c.2662T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3510T>C
  hgvsp: ENST00000409792.3:c.3510T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3378T>C
  hgvsp: ENST00000412450.1:c.3378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser1170Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

3-47162630-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162630
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162630
    reference: chr 3
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2396G>C
  hgvsp: ENSP00000411901.1:p.Asp800His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2648G>C
  hgvsp: ENSP00000388349.1:p.Asp884His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3111G>C
  hgvsp: ENSP00000332415.7:p.Asp1038His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3496G>C
  hgvsp: ENSP00000386759.3:p.Asp1166His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3364G>C
  hgvsp: ENSP00000416401.1:p.Asp1122His
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp1166His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-47162634-CTGAGGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162634
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162628
    reference: chr 3
allele count: 6
allele frequency: 4.95278346430694e-5
allele num: 121144
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3486_3491delTCCTCA
  hgvsp: ENSP00000386759.3:p.His1162_Pro1163del
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2386_2391delTCCTCA
  hgvsp: ENSP00000411901.1:p.His796_Pro797del
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3101_3106delTCCTCA
  hgvsp: ENSP00000332415.7:p.His1034_Pro1035del
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3354_3359delTCCTCA
  hgvsp: ENSP00000416401.1:p.His1118_Pro1119del
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2638_2643delTCCTCA
  hgvsp: ENSP00000388349.1:p.His880_Pro881del
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6612
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His1162_Pro1163del
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: CTGAGGA
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

3-47162642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162642
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162642
    reference: chr 3
allele count: 11
allele frequency: 9.079953114423918e-5
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2636C>T
  hgvsp: ENSP00000388349.1:p.His880Tyr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3099C>T
  hgvsp: ENSP00000332415.7:p.His1034Tyr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3484C>T
  hgvsp: ENSP00000386759.3:p.His1162Tyr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2384C>T
  hgvsp: ENSP00000411901.1:p.His796Tyr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3352C>T
  hgvsp: ENSP00000416401.1:p.His1118Tyr
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4717
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 8483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His1162Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-47162644-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162644
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162644
    reference: chr 3
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3482C>G
  hgvsp: ENSP00000386759.3:p.Ser1161Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3097C>G
  hgvsp: ENSP00000332415.7:p.Ser1033Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2634C>G
  hgvsp: ENSP00000388349.1:p.Ser879Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2382C>G
  hgvsp: ENSP00000411901.1:p.Ser795Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3350C>G
  hgvsp: ENSP00000416401.1:p.Ser1117Cys
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser1161Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-47162651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162651
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162651
    reference: chr 3
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2627G>A
  hgvsp: ENSP00000388349.1:p.Glu877Lys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3475G>A
  hgvsp: ENSP00000386759.3:p.Glu1159Lys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3343G>A
  hgvsp: ENSP00000416401.1:p.Glu1115Lys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3090G>A
  hgvsp: ENSP00000332415.7:p.Glu1031Lys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2375G>A
  hgvsp: ENSP00000411901.1:p.Glu793Lys
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu1159Lys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/3-47162655-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162655
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162655
    reference: chr 3
allele count: 2
allele frequency: 1.65169133192389e-5
allele num: 121088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3086G>T
  hgvsp: ENST00000330022.7:c.3086G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2623G>T
  hgvsp: ENST00000431180.1:c.2623G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2371G>T
  hgvsp: ENST00000445387.1:c.2371G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3471G>T
  hgvsp: ENST00000409792.3:c.3471G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3339G>T
  hgvsp: ENST00000412450.1:c.3339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6618
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8481
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1157Leu
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: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-47162659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162659
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162659
    reference: chr 3
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2367G>A
  hgvsp: ENSP00000411901.1:p.Arg790His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3335G>A
  hgvsp: ENSP00000416401.1:p.Arg1112His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3082G>A
  hgvsp: ENSP00000332415.7:p.Arg1028His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3467G>A
  hgvsp: ENSP00000386759.3:p.Arg1156His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2619G>A
  hgvsp: ENSP00000388349.1:p.Arg874His
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6619
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1156His
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

3-47162661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162661
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162661
    reference: chr 3
allele count: 76875
allele frequency: 6.343031123139378e-1
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3333T>C
  hgvsp: ENST00000412450.1:c.3333T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2365T>C
  hgvsp: ENST00000445387.1:c.2365T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3080T>C
  hgvsp: ENST00000330022.7:c.3080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2617T>C
  hgvsp: ENST00000431180.1:c.2617T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3465T>C
  hgvsp: ENST00000409792.3:c.3465T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.25e1
  variant carriers: 670
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.75e1
  variant carriers: 684
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 337
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 46031
  bin: 9.75e1
  variant carriers: 46017
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.25e1
  variant carriers: 753
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 721
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.25e1
  variant carriers: 729
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.25e1
  variant carriers: 532
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 407
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 635
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 6.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 52174
  bin: 9.75e1
  variant carriers: 52075
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 29
hgvs: p.Asn1155Asn
num of homozygotes: 24642
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

3-47162665-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162665
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162665
    reference: chr 3
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3076A>G
  hgvsp: ENSP00000332415.7:p.Asp1026Gly
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3461A>G
  hgvsp: ENSP00000386759.3:p.Asp1154Gly
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2361A>G
  hgvsp: ENSP00000411901.1:p.Asp788Gly
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3329A>G
  hgvsp: ENSP00000416401.1:p.Asp1110Gly
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2613A>G
  hgvsp: ENSP00000388349.1:p.Asp872Gly
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp1154Gly
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-47162668-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162668
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162668
    reference: chr 3
allele count: 2
allele frequency: 1.652755970580944e-5
allele num: 121010
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3458T>C
  hgvsp: ENSP00000386759.3:p.Ile1153Thr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3073T>C
  hgvsp: ENSP00000332415.7:p.Ile1025Thr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3326T>C
  hgvsp: ENSP00000416401.1:p.Ile1109Thr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2610T>C
  hgvsp: ENSP00000388349.1:p.Ile871Thr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2358T>C
  hgvsp: ENSP00000411901.1:p.Ile787Thr
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9274
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile1153Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-47162680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162680
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162680
    reference: chr 3
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3314G>A
  hgvsp: ENSP00000416401.1:p.Ser1105Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2598G>A
  hgvsp: ENSP00000388349.1:p.Ser867Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3061G>A
  hgvsp: ENSP00000332415.7:p.Ser1021Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3446G>A
  hgvsp: ENSP00000386759.3:p.Ser1149Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2346G>A
  hgvsp: ENSP00000411901.1:p.Ser783Asn
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27949
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1149Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-47162683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162683
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162683
    reference: chr 3
allele count: 2
allele frequency: 1.652755970580944e-5
allele num: 121010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2595C>T
  hgvsp: ENSP00000388349.1:p.Ser866Phe
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3058C>T
  hgvsp: ENSP00000332415.7:p.Ser1020Phe
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3443C>T
  hgvsp: ENSP00000386759.3:p.Ser1148Phe
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2343C>T
  hgvsp: ENSP00000411901.1:p.Ser782Phe
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3311C>T
  hgvsp: ENSP00000416401.1:p.Ser1104Phe
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser1148Phe
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-47162685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162685
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162685
    reference: chr 3
allele count: 4
allele frequency: 3.305511941161887e-5
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3441G>A
  hgvsp: ENST00000409792.3:c.3441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3309G>A
  hgvsp: ENST00000412450.1:c.3309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3056G>A
  hgvsp: ENST00000330022.7:c.3056G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2341G>A
  hgvsp: ENST00000445387.1:c.2341G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2593G>A
  hgvsp: ENST00000431180.1:c.2593G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln1147Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

3-47162695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162695
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162695
    reference: chr 3
allele count: 3
allele frequency: 2.479052010511181e-5
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3431C>T
  hgvsp: ENSP00000386759.3:p.Ser1144Phe
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2331C>T
  hgvsp: ENSP00000411901.1:p.Ser778Phe
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3046C>T
  hgvsp: ENSP00000332415.7:p.Ser1016Phe
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2583C>T
  hgvsp: ENSP00000388349.1:p.Ser862Phe
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3299C>T
  hgvsp: ENSP00000416401.1:p.Ser1100Phe
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser1144Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

3-47162697-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162697
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162697
    reference: chr 3
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2581T>A
  hgvsp: ENST00000431180.1:c.2581T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2329T>A
  hgvsp: ENST00000445387.1:c.2329T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3044T>A
  hgvsp: ENST00000330022.7:c.3044T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3429T>A
  hgvsp: ENST00000409792.3:c.3429T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3297T>A
  hgvsp: ENST00000412450.1:c.3297T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile1143Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-47162703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162703
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162703
    reference: chr 3
allele count: 2
allele frequency: 1.652537471287161e-5
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3038G>A
  hgvsp: ENST00000330022.7:c.3038G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2575G>A
  hgvsp: ENST00000431180.1:c.2575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2323G>A
  hgvsp: ENST00000445387.1:c.2323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3423G>A
  hgvsp: ENST00000409792.3:c.3423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3291G>A
  hgvsp: ENST00000412450.1:c.3291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1141Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

3-47162704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162704
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162704
    reference: chr 3
allele count: 81
allele frequency: 6.692887361184559e-4
allele num: 121024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3037C>T
  hgvsp: ENSP00000332415.7:p.Pro1013Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3422C>T
  hgvsp: ENSP00000386759.3:p.Pro1141Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2322C>T
  hgvsp: ENSP00000411901.1:p.Pro775Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3290C>T
  hgvsp: ENSP00000416401.1:p.Pro1097Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2574C>T
  hgvsp: ENSP00000388349.1:p.Pro859Leu
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 9.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9249
  bin: 9.75e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro1141Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-47162736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162736
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162736
    reference: chr 3
allele count: 4
allele frequency: 3.304583457255213e-5
allele num: 121044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3005G>A
  hgvsp: ENST00000330022.7:c.3005G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3258G>A
  hgvsp: ENST00000412450.1:c.3258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2542G>A
  hgvsp: ENST00000431180.1:c.2542G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3390G>A
  hgvsp: ENST00000409792.3:c.3390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2290G>A
  hgvsp: ENST00000445387.1:c.2290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9175
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys1130Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-47162740-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162740
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162740
    reference: chr 3
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2538A>C
  hgvsp: ENSP00000388349.1:p.Asp847Ala
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.3001A>C
  hgvsp: ENSP00000332415.7:p.Asp1001Ala
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3254A>C
  hgvsp: ENSP00000416401.1:p.Asp1085Ala
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2286A>C
  hgvsp: ENSP00000411901.1:p.Asp763Ala
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3386A>C
  hgvsp: ENSP00000386759.3:p.Asp1129Ala
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37866
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp1129Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

3-47162743-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162743
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162743
    reference: chr 3
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3251C>G
  hgvsp: ENSP00000416401.1:p.Thr1084Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2283C>G
  hgvsp: ENSP00000411901.1:p.Thr762Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3383C>G
  hgvsp: ENSP00000386759.3:p.Thr1128Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2998C>G
  hgvsp: ENSP00000332415.7:p.Thr1000Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2535C>G
  hgvsp: ENSP00000388349.1:p.Thr846Ser
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37856
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr1128Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

3-47162749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162749
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162749
    reference: chr 3
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3245C>T
  hgvsp: ENSP00000416401.1:p.Pro1082Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2277C>T
  hgvsp: ENSP00000411901.1:p.Pro760Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2992C>T
  hgvsp: ENSP00000332415.7:p.Pro998Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3377C>T
  hgvsp: ENSP00000386759.3:p.Pro1126Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2529C>T
  hgvsp: ENSP00000388349.1:p.Pro844Leu
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1126Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-47162750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162750
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162750
    reference: chr 3
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3376C>T
  hgvsp: ENSP00000386759.3:p.Pro1126Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2528C>T
  hgvsp: ENSP00000388349.1:p.Pro844Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2991C>T
  hgvsp: ENSP00000332415.7:p.Pro998Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3244C>T
  hgvsp: ENSP00000416401.1:p.Pro1082Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2276C>T
  hgvsp: ENSP00000411901.1:p.Pro760Ser
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1126Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-47162752-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162752
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162752
    reference: chr 3
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3242G>C
  hgvsp: ENSP00000416401.1:p.Cys1081Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2526G>C
  hgvsp: ENSP00000388349.1:p.Cys843Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2274G>C
  hgvsp: ENSP00000411901.1:p.Cys759Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3374G>C
  hgvsp: ENSP00000386759.3:p.Cys1125Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2989G>C
  hgvsp: ENSP00000332415.7:p.Cys997Ser
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys1125Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum

3-47162755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162755
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162755
    reference: chr 3
allele count: 4
allele frequency: 3.307315782510914e-5
allele num: 120944
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3371C>T
  hgvsp: ENSP00000386759.3:p.Ala1124Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2271C>T
  hgvsp: ENSP00000411901.1:p.Ala758Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2986C>T
  hgvsp: ENSP00000332415.7:p.Ala996Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3239C>T
  hgvsp: ENSP00000416401.1:p.Ala1080Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2523C>T
  hgvsp: ENSP00000388349.1:p.Ala842Val
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1124Val
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

3-47162795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162795
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162795
    reference: chr 3
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3199C>T
  hgvsp: ENSP00000416401.1:p.His1067Tyr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3331C>T
  hgvsp: ENSP00000386759.3:p.His1111Tyr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2483C>T
  hgvsp: ENSP00000388349.1:p.His829Tyr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2231C>T
  hgvsp: ENSP00000411901.1:p.His745Tyr
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2946C>T
  hgvsp: ENSP00000332415.7:p.His983Tyr
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His1111Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-47162802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162802
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162802
    reference: chr 3
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2939A>G
  hgvsp: ENST00000330022.7:c.2939A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2476A>G
  hgvsp: ENST00000431180.1:c.2476A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2224A>G
  hgvsp: ENST00000445387.1:c.2224A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3192A>G
  hgvsp: ENST00000412450.1:c.3192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3324A>G
  hgvsp: ENST00000409792.3:c.3324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1108Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-47162804-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162804
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162804
    reference: chr 3
allele count: 2
allele frequency: 1.654533421575116e-5
allele num: 120880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2222T>C
  hgvsp: ENSP00000411901.1:p.Ser742Pro
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2474T>C
  hgvsp: ENSP00000388349.1:p.Ser826Pro
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3322T>C
  hgvsp: ENSP00000386759.3:p.Ser1108Pro
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2937T>C
  hgvsp: ENSP00000332415.7:p.Ser980Pro
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3190T>C
  hgvsp: ENSP00000416401.1:p.Ser1064Pro
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9155
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser1108Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

3-47162806-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162806
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162806
    reference: chr 3
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3320A>T
  hgvsp: ENSP00000386759.3:p.Glu1107Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2935A>T
  hgvsp: ENSP00000332415.7:p.Glu979Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2220A>T
  hgvsp: ENSP00000411901.1:p.Glu741Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3188A>T
  hgvsp: ENSP00000416401.1:p.Glu1063Val
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2472A>T
  hgvsp: ENSP00000388349.1:p.Glu825Val
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu1107Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-47162807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162807
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162807
    reference: chr 3
allele count: 2
allele frequency: 1.65456079683648e-5
allele num: 120878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2219G>A
  hgvsp: ENSP00000411901.1:p.Glu741Lys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3187G>A
  hgvsp: ENSP00000416401.1:p.Glu1063Lys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3319G>A
  hgvsp: ENSP00000386759.3:p.Glu1107Lys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2934G>A
  hgvsp: ENSP00000332415.7:p.Glu979Lys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2471G>A
  hgvsp: ENSP00000388349.1:p.Glu825Lys
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9152
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu1107Lys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/3-47162809-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162809
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162809
    reference: chr 3
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3185T>G
  hgvsp: ENSP00000416401.1:p.Leu1062Trp
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2217T>G
  hgvsp: ENSP00000411901.1:p.Leu740Trp
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3317T>G
  hgvsp: ENSP00000386759.3:p.Leu1106Trp
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2932T>G
  hgvsp: ENSP00000332415.7:p.Leu978Trp
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2469T>G
  hgvsp: ENSP00000388349.1:p.Leu824Trp
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu1106Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

3-47162809-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162809
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162809
    reference: chr 3
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2932T>C
  hgvsp: ENSP00000332415.7:p.Leu978Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3317T>C
  hgvsp: ENSP00000386759.3:p.Leu1106Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2217T>C
  hgvsp: ENSP00000411901.1:p.Leu740Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2469T>C
  hgvsp: ENSP00000388349.1:p.Leu824Ser
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3185T>C
  hgvsp: ENSP00000416401.1:p.Leu1062Ser
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7414
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1106Ser
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-47162810-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162810
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162810
    reference: chr 3
allele count: 2
allele frequency: 1.654423929587718e-5
allele num: 120888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2931T>C
  hgvsp: ENST00000330022.7:c.2931T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3184T>C
  hgvsp: ENST00000412450.1:c.3184T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2468T>C
  hgvsp: ENST00000431180.1:c.2468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2216T>C
  hgvsp: ENST00000445387.1:c.2216T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3316T>C
  hgvsp: ENST00000409792.3:c.3316T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9148
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1106Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-47162822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162822
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162822
    reference: chr 3
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2456G>A
  hgvsp: ENSP00000388349.1:p.Glu820Lys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2204G>A
  hgvsp: ENSP00000411901.1:p.Glu736Lys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3304G>A
  hgvsp: ENSP00000386759.3:p.Glu1102Lys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2919G>A
  hgvsp: ENSP00000332415.7:p.Glu974Lys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3172G>A
  hgvsp: ENSP00000416401.1:p.Glu1058Lys
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9146
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu1102Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

3-47162826-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162826
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162826
    reference: chr 3
allele count: 2
allele frequency: 1.654451301225948e-5
allele num: 120886
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2200T>C
  hgvsp: ENST00000445387.1:c.2200T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2915T>C
  hgvsp: ENST00000330022.7:c.2915T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3168T>C
  hgvsp: ENST00000412450.1:c.3168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3300T>C
  hgvsp: ENST00000409792.3:c.3300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2452T>C
  hgvsp: ENST00000431180.1:c.2452T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13071
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9144
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His1100His
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-47162835-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162835
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162835
    reference: chr 3
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2443T>C
  hgvsp: ENST00000431180.1:c.2443T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2906T>C
  hgvsp: ENST00000330022.7:c.2906T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3291T>C
  hgvsp: ENST00000409792.3:c.3291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3159T>C
  hgvsp: ENST00000412450.1:c.3159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2191T>C
  hgvsp: ENST00000445387.1:c.2191T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9142
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr1097Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

3-47162836-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162836
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162836
    reference: chr 3
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2442A>G
  hgvsp: ENSP00000388349.1:p.Tyr815Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3290A>G
  hgvsp: ENSP00000386759.3:p.Tyr1097Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2905A>G
  hgvsp: ENSP00000332415.7:p.Tyr969Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3158A>G
  hgvsp: ENSP00000416401.1:p.Tyr1053Cys
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2190A>G
  hgvsp: ENSP00000411901.1:p.Tyr731Cys
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9141
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7411
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr1097Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-47162837-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162837
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162837
    reference: chr 3
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3289T>C
  hgvsp: ENSP00000386759.3:p.Tyr1097His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2904T>C
  hgvsp: ENSP00000332415.7:p.Tyr969His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2441T>C
  hgvsp: ENSP00000388349.1:p.Tyr815His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2189T>C
  hgvsp: ENSP00000411901.1:p.Tyr731His
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3157T>C
  hgvsp: ENSP00000416401.1:p.Tyr1053His
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27617
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr1097His
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

3-47162844-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162844
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162844
    reference: chr 3
allele count: 3
allele frequency: 2.481512730160306e-5
allele num: 120894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2434T>C
  hgvsp: ENST00000431180.1:c.2434T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3150T>C
  hgvsp: ENST00000412450.1:c.3150T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2182T>C
  hgvsp: ENST00000445387.1:c.2182T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3282T>C
  hgvsp: ENST00000409792.3:c.3282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2897T>C
  hgvsp: ENST00000330022.7:c.2897T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr1094Tyr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

3-47162850-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162850
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162850
    reference: chr 3
allele count: 10
allele frequency: 8.271845945141118e-5
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3276A>G
  hgvsp: ENST00000409792.3:c.3276A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3144A>G
  hgvsp: ENST00000412450.1:c.3144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2891A>G
  hgvsp: ENST00000330022.7:c.2891A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2176A>G
  hgvsp: ENST00000445387.1:c.2176A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2428A>G
  hgvsp: ENST00000431180.1:c.2428A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9139
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln1092Gln
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

3-47162857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162857
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162857
    reference: chr 3
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2421G>A
  hgvsp: ENSP00000388349.1:p.Ser808Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2884G>A
  hgvsp: ENSP00000332415.7:p.Ser962Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3269G>A
  hgvsp: ENSP00000386759.3:p.Ser1090Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2169G>A
  hgvsp: ENSP00000411901.1:p.Ser724Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3137G>A
  hgvsp: ENSP00000416401.1:p.Ser1046Asn
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9129
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1090Asn
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-47162860-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162860
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162860
    reference: chr 3
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3266G>T
  hgvsp: ENSP00000386759.3:p.Arg1089Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3134G>T
  hgvsp: ENSP00000416401.1:p.Arg1045Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2166G>T
  hgvsp: ENSP00000411901.1:p.Arg723Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2418G>T
  hgvsp: ENSP00000388349.1:p.Arg807Leu
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2881G>T
  hgvsp: ENSP00000332415.7:p.Arg961Leu
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1089Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-47162860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162860
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162860
    reference: chr 3
allele count: 2
allele frequency: 1.654341820106871e-5
allele num: 120894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2418G>A
  hgvsp: ENSP00000388349.1:p.Arg807Gln
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3134G>A
  hgvsp: ENSP00000416401.1:p.Arg1045Gln
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2881G>A
  hgvsp: ENSP00000332415.7:p.Arg961Gln
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3266G>A
  hgvsp: ENSP00000386759.3:p.Arg1089Gln
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2166G>A
  hgvsp: ENSP00000411901.1:p.Arg723Gln
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1089Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS

3-47162861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162861
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162861
    reference: chr 3
allele count: 2
allele frequency: 1.654259718775848e-5
allele num: 120900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3133C>T
  hgvsp: ENSP00000416401.1:p.Arg1045Trp
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2417C>T
  hgvsp: ENSP00000388349.1:p.Arg807Trp
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3265C>T
  hgvsp: ENSP00000386759.3:p.Arg1089Trp
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2880C>T
  hgvsp: ENSP00000332415.7:p.Arg961Trp
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2165C>T
  hgvsp: ENSP00000411901.1:p.Arg723Trp
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1089Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

3-47162875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162875
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162875
    reference: chr 3
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3251G>A
  hgvsp: ENSP00000386759.3:p.Ser1084Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2866G>A
  hgvsp: ENSP00000332415.7:p.Ser956Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2151G>A
  hgvsp: ENSP00000411901.1:p.Ser718Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3119G>A
  hgvsp: ENSP00000416401.1:p.Ser1040Asn
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2403G>A
  hgvsp: ENSP00000388349.1:p.Ser802Asn
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1084Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-47162877-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162877
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162877
    reference: chr 3
allele count: 288
allele frequency: 2.381227986043358e-3
allele num: 120946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2401A>C
  hgvsp: ENST00000431180.1:c.2401A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3117A>C
  hgvsp: ENST00000412450.1:c.3117A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3249A>C
  hgvsp: ENST00000409792.3:c.3249A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2864A>C
  hgvsp: ENST00000330022.7:c.2864A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2149A>C
  hgvsp: ENST00000445387.1:c.2149A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27617
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13218
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 9.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9183
  bin: 9.75e1
  variant carriers: 287
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr1083Thr
num of homozygotes: 2
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

3-47162879-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162879
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162879
    reference: chr 3
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsc: ENST00000330022.7:c.2862A>G
  hgvsp: ENSP00000332415.7:p.Thr955Ala
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsc: ENST00000412450.1:c.3115A>G
  hgvsp: ENSP00000416401.1:p.Thr1039Ala
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsc: ENST00000409792.3:c.3247A>G
  hgvsp: ENSP00000386759.3:p.Thr1083Ala
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsc: ENST00000445387.1:c.2147A>G
  hgvsp: ENSP00000411901.1:p.Thr717Ala
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsc: ENST00000431180.1:c.2399A>G
  hgvsp: ENSP00000388349.1:p.Thr801Ala
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9107
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr1083Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

3-47162879-TTTCTTCCATGGGCAAAGTAGAATTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47162879
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47162854
    reference: chr 3
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000411901
  ensembl transcript: ENST00000445387
  gene symbol: SETD2
  hgvsp: ENSP00000411901.1:p.Asn709GlnfsTer38
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000332415
  ensembl transcript: ENST00000330022
  gene symbol: SETD2
  hgvsp: ENSP00000332415.7:p.Asn947GlnfsTer38
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000416401
  ensembl transcript: ENST00000412450
  gene symbol: SETD2
  hgvsp: ENSP00000416401.1:p.Asn1031GlnfsTer38
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000386759
  ensembl transcript: ENST00000409792
  gene symbol: SETD2
  hgvsp: ENSP00000386759.3:p.Asn1075GlnfsTer38
  variant of: http://identifiers.org/hgnc/18420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181555
  ensembl protein: ENSP00000388349
  ensembl transcript: ENST00000431180
  gene symbol: SETD2
  hgvsp: ENSP00000388349.1:p.Asn793GlnfsTer38
  variant of: http://identifiers.org/hgnc/18420
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn1075GlnfsTer38
num of homozygotes: 0
reference allele: TTTCTTCCATGGGCAAAGTAGAATTC

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

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

GenotypeQuality
all individuals: 4637
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6455
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.23e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.899e0

DP
type: SiteQuality
SIO_000300: 1.74925e6

VQSLOD
type: SiteQuality
SIO_000300: 9.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.234e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 8395
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6457
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3647
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3392
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.783e0

QD
type: SiteQuality
SIO_000300: 1.192e1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

DP
type: SiteQuality
SIO_000300: 1.750298e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 2.301e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

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

GenotypeQuality
all individuals: 6457
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1458
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3648
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.554e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 3.134e0

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.918e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.377e1

DP
type: SiteQuality
SIO_000300: 1.750338e6

GenotypeQuality
all individuals: 4643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3649
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8395
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6460
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1833
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 5
allele frequency: 4.871395167575994e-4
allele num: 10264
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.48e0

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 1.751116e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.291e1

VQSLOD
type: SiteQuality
SIO_000300: 9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.32e-1

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4644
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8395
bin: 6.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.74089226573154e-5
allele num: 10266
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.123e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 2.378e0

QD
type: SiteQuality
SIO_000300: 1.448e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 1.751172e6

GenotypeQuality
all individuals: 8400
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4644
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6461
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30494
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
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: 6612
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.426e0

DP
type: SiteQuality
SIO_000300: 1.75142e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 3.529e0

QD
type: SiteQuality
SIO_000300: 1.303e1

VQSLOD
type: SiteQuality
SIO_000300: 9.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.386e0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30468
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8403
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.03e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 2.035e0

QD
type: SiteQuality
SIO_000300: 1.407e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.003e0

DP
type: SiteQuality
SIO_000300: 1.751486e6

GenotypeQuality
all individuals: 3391
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6481
bin: 9.75e1
variant carriers: 26

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

GenotypeQuality
all individuals: 1458
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.361161524500907e-3
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 2.998141152485459e-4
allele num: 66708
num of homozygotes: 3

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

FS
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 1.662e1

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.21e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

DP
type: SiteQuality
SIO_000300: 1.75487e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8403
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3648
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6481
bin: 9.75e1
variant carriers: 1

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.297e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.64e-1

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.799e0

MQRankSum
type: SiteQuality
SIO_000300: -1.313e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e0

QD
type: SiteQuality
SIO_000300: 1.148e1

DP
type: SiteQuality
SIO_000300: 1.754501e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 50
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variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

QD
type: SiteQuality
SIO_000300: 1.609e1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

DP
type: SiteQuality
SIO_000300: 1.755082e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.82e0

FS
type: SiteQuality
SIO_000300: 2.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10252
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.127e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.3e-1

FS
type: SiteQuality
SIO_000300: 7.33e-1

QD
type: SiteQuality
SIO_000300: 1.751e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.72e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.755093e6

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

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 10256
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.755668e6

FS
type: SiteQuality
SIO_000300: 1.758e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.384e1

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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variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.755781e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
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QD
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SIO_000300: 1.663e1

MQRankSum
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SIO_000300: 8.39e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.71e0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.986e1

QD
type: SiteQuality
SIO_000300: 1.4e1

FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeQuality
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variant carriers: 0

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

Other
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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: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
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

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
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allele count: 0
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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

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

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

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

ClippingRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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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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bin: 6.25e1
variant carriers: 0

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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66718
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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South Asian
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Latino
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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DP
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FS
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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num of homozygotes: 0

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

East Asian
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Other
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VQSLOD
type: SiteQuality
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MQ
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ReadPosRankSum
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MQRankSum
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FS
type: SiteQuality
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BaseQRankSum
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QD
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ClippingRankSum
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DP
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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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bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.756385e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 1.773e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.96e0

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30355
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variant carriers: 0

GenotypeQuality
all individuals: 6503
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4658
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
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: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.756828e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.442e1

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: 128

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 106
allele frequency: 1.588776641985671e-3
allele num: 66718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.537205081669691e-4
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.382408847416624e-3
allele num: 11574
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.960015680125441e-4
allele num: 10204
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

QD
type: SiteQuality
SIO_000300: 1.417e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.46e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 1.769533e6

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

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
all individuals: 6569
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variant carriers: 2

GenotypeQuality
all individuals: 50
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variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.585e0

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.764041e6

QD
type: SiteQuality
SIO_000300: 1.324e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 1.923e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8423
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.121e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.734e-1

QD
type: SiteQuality
SIO_000300: 1.734e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-1

DP
type: SiteQuality
SIO_000300: 1.76454e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.386e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.35e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1459
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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: 10192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
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: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.008e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.833e-1

DP
type: SiteQuality
SIO_000300: 1.765521e6

FS
type: SiteQuality
SIO_000300: 4.34e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: -1.228e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6585
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GenotypeQuality
all individuals: 3693
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.827044025157233e-5
allele num: 10176
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.373e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 1.766647e6

FS
type: SiteQuality
SIO_000300: 3.923e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.966568338249754e-4
allele num: 10170
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.469e1

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.767608e6

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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GenotypeQuality
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GenotypeQuality
all individuals: 7
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.768652e6

FS
type: SiteQuality
SIO_000300: 1.166e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
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SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
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 frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.769266e6

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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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bin: 8.25e1
variant carriers: 0

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

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

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

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

African
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allele count: 11
allele frequency: 1.083103584088224e-3
allele num: 10156
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.770757e6

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

GenotypeQuality
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 3474
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1475
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.84e-1

DP
type: SiteQuality
SIO_000300: 1.770768e6

VQSLOD
type: SiteQuality
SIO_000300: -8.778e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

FS
type: SiteQuality
SIO_000300: 4.67e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.781e0

GenotypeQuality
all individuals: 4718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6617
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1475
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.202e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.004e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.561e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 1.770967e6

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30043
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.980590215884333e-4
allele num: 10098
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 8.577e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

QD
type: SiteQuality
SIO_000300: 1.361e1

DP
type: SiteQuality
SIO_000300: 1.771213e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.502e0

VQSLOD
type: SiteQuality
SIO_000300: -1.067e0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1857
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.373e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 1.555e0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 1.771386e6

GenotypeQuality
all individuals: 68
bin: 8.25e1
variant carriers: 14

GenotypeQuality
all individuals: 221
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 6920
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 41
bin: 9.25e1
variant carriers: 19

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 6

South Asian
type: Population
allele count: 9876
allele frequency: 5.981829194427619e-1
allele num: 16510
num of homozygotes: 2975

African
type: Population
allele count: 7726
allele frequency: 7.568573667711599e-1
allele num: 10208
num of homozygotes: 2933

Latino
type: Population
allele count: 8947
allele frequency: 7.727586802556573e-1
allele num: 11578
num of homozygotes: 3492

East Asian
type: Population
allele count: 5901
allele frequency: 6.820388349514563e-1
allele num: 8652
num of homozygotes: 2030

European (Non-Finnish)
type: Population
allele count: 39728
allele frequency: 5.95336570161242e-1
allele num: 66732
num of homozygotes: 11788

Other
type: Population
allele count: 576
allele frequency: 6.357615894039735e-1
allele num: 906
num of homozygotes: 180

European (Finnish)
type: Population
allele count: 4121
allele frequency: 6.234493192133131e-1
allele num: 6610
num of homozygotes: 1244

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 9.010574e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 2.36e1

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

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

GenotypeQuality
all individuals: 1952
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9273
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 383
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

QD
type: SiteQuality
SIO_000300: 1.558e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 7.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 2.23461e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.021e0

GenotypeQuality
all individuals: 2169
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7571
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.978048293753742e-5
allele num: 10022
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

FS
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

DP
type: SiteQuality
SIO_000300: 2.23441e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

GenotypeQuality
all individuals: 9261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 383
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.233696e6

MQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.513e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.54e-1

FS
type: SiteQuality
SIO_000300: 7.324e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9263
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.467e0

FS
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.45e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

QD
type: SiteQuality
SIO_000300: 1.173e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

DP
type: SiteQuality
SIO_000300: 2.233975e6

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9258
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2160
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994305409860632e-5
allele num: 66730
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.401e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

FS
type: SiteQuality
SIO_000300: 1.269e0

DP
type: SiteQuality
SIO_000300: 2.233531e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 2159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9256
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variant carriers: 3

GenotypeQuality
all individuals: 7569
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GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

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

GenotypeQuality
all individuals: 1945
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.816e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

MQ
type: SiteQuality
SIO_000300: 5.988e1

DP
type: SiteQuality
SIO_000300: 2.233291e6

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

GenotypeQuality
all individuals: 1945
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9252
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 382
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.964129135113592e-5
allele num: 10036
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.232909e6

MQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 2.1674e1

VQSLOD
type: SiteQuality
SIO_000300: -2.248e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9251
bin: 9.75e1
variant carriers: 2

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

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

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

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

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.234e1

FS
type: SiteQuality
SIO_000300: 9.435e0

DP
type: SiteQuality
SIO_000300: 2.232715e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.645e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 381
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 68
allele frequency: 1.019062462534468e-3
allele num: 66728
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.319281271596407e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.987452698665605e-4
allele num: 10042
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.2327e6

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

FS
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 37880
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variant carriers: 0

GenotypeQuality
all individuals: 7561
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.405e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.5e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.383e0

DP
type: SiteQuality
SIO_000300: 2.223307e6

GenotypeQuality
all individuals: 1933
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2154
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variant carriers: 0

GenotypeQuality
all individuals: 411
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variant carriers: 0

GenotypeQuality
all individuals: 9175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.920634920634921e-5
allele num: 10080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 6612
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.957e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.222821e6

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

QD
type: SiteQuality
SIO_000300: 1.806e1

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 379
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variant carriers: 0

GenotypeQuality
all individuals: 210
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 10080
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.84e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
type: SiteQuality
SIO_000300: 5.707e0

DP
type: SiteQuality
SIO_000300: 2.222537e6

GenotypeQuality
all individuals: 7543
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
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variant carriers: 0

GenotypeQuality
all individuals: 37814
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9174
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variant carriers: 1

GenotypeQuality
all individuals: 379
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variant carriers: 0

GenotypeQuality
all individuals: 410
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GenotypeQuality
all individuals: 2151
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.920634920634921e-5
allele num: 10080
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

DP
type: SiteQuality
SIO_000300: 2.221841e6

VQSLOD
type: SiteQuality
SIO_000300: -2.003e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0203e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

QD
type: SiteQuality
SIO_000300: 1.366e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.206e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.315e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 7538
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -5.484e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.142e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.076e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.924573243350536e-5
allele num: 10076
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.221176e6

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.033e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9166
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variant carriers: 4

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.460207612456747e-4
allele num: 11560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.195e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.788e0

DP
type: SiteQuality
SIO_000300: 2.219991e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 2120
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GenotypeQuality
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GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 862
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GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 397
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.637e0

QD
type: SiteQuality
SIO_000300: 1.388e1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.697e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 2.21493e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

GenotypeQuality
all individuals: 398
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37669
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9155
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.083e0

QD
type: SiteQuality
SIO_000300: 1.128e1

VQSLOD
type: SiteQuality
SIO_000300: 8.080000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.214444e6

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7427
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

QD
type: SiteQuality
SIO_000300: 1.313e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

DP
type: SiteQuality
SIO_000300: 2.214427e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-1

GenotypeQuality
all individuals: 7421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9153
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.55e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

DP
type: SiteQuality
SIO_000300: 2.21426e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

FS
type: SiteQuality
SIO_000300: 4.581e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.278e0

QD
type: SiteQuality
SIO_000300: 9.25e0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37679
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.138e0

DP
type: SiteQuality
SIO_000300: 2.214228e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.912e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.46e-1

QD
type: SiteQuality
SIO_000300: 1.546e1

VQSLOD
type: SiteQuality
SIO_000300: -5.306999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 4.637e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 372
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.526e1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e0

FS
type: SiteQuality
SIO_000300: 5.908e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.21393e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
all individuals: 856
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 9149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503668952243474e-5
allele num: 66504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

DP
type: SiteQuality
SIO_000300: 2.21393e6

FS
type: SiteQuality
SIO_000300: 5.908e0

QD
type: SiteQuality
SIO_000300: 1.526e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2124
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007518796992481e-5
allele num: 66500
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.91e0

DP
type: SiteQuality
SIO_000300: 2.213789e6

FS
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.362e1

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7413
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.187e1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

FS
type: SiteQuality
SIO_000300: 2.288e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

DP
type: SiteQuality
SIO_000300: 2.213341e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
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: 2
allele frequency: 3.008604609182261e-5
allele num: 66476
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.213173e6

FS
type: SiteQuality
SIO_000300: 1.778e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.362e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e0

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.198e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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: 900
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

DP
type: SiteQuality
SIO_000300: 2.212585e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.830000000000001e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.354e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.31e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.601456815816858e-4
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

FS
type: SiteQuality
SIO_000300: 1.094e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 2.212513e6

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.652e1

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
all individuals: 851
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 10
allele frequency: 1.504709741490866e-4
allele num: 66458
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.097e0

QD
type: SiteQuality
SIO_000300: 1.564e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

DP
type: SiteQuality
SIO_000300: 2.212454e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.03e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.009e0

DP
type: SiteQuality
SIO_000300: 2.211514e6

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.024e0

GenotypeQuality
all individuals: 395
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variant carriers: 0

GenotypeQuality
all individuals: 37
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GenotypeQuality
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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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 2.211651e6

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.347e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.211651e6

FS
type: SiteQuality
SIO_000300: 4.36e-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
all individuals: 374
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
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South Asian
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allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.072e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.503940323647958e-5
allele num: 66492
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Other
type: Population
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allele num: 900
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
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East Asian
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Latino
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African
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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DP
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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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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
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allele count: 281
allele frequency: 2.724980605120248e-2
allele num: 10312
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Other
type: Population
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allele num: 900
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Latino
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allele count: 4
allele frequency: 3.467406380027739e-4
allele num: 11536
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South Asian
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allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1890
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
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East Asian
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African
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allele frequency: 0.0e0
allele num: 10310
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

Latino
type: Population
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Other
type: Population
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allele num: 900
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VQSLOD
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SIO_000300: -9.500999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.795e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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