3-52977639-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52977639
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52977639
    reference: chr 3
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.124-30T>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.124-30T>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.124-30T>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.124-30T>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.124-30T>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.124-30T>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.124-30T>A
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-52977640-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52977640
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52977640
    reference: chr 3
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.124-31G>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.124-31G>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.124-31G>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.124-31G>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.124-31G>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.124-31G>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.124-31G>C
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47735
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 165
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-52977641-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52977641
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52977641
    reference: chr 3
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.124-32T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.124-32T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.124-32T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.124-32T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.124-32T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.124-32T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.124-32T>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 3204
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

3-52977646-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52977646
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52977646
    reference: chr 3
allele count: 2
allele frequency: 1.652783287055401e-5
allele num: 121008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.124-37A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.124-37A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.124-37A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.124-37A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.124-37A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.124-37A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.124-37A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/3-52977655-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52977655
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52977655
    reference: chr 3
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.124-46T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.124-46T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.124-46T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.124-46T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.124-46T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.124-46T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.124-46T>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

3-52977660-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52977660
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52977660
    reference: chr 3
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.124-51A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.124-51A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.124-51A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.124-51A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.124-51A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.124-51A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.124-51A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-52988284-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988284
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988284
    reference: chr 3
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.123+49G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.123+49G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.123+49G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.123+49G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.123+49G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.123+49G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.123+49G>T
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15492
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

3-52988285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988285
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988285
    reference: chr 3
allele count: 3
allele frequency: 2.480281760007937e-5
allele num: 120954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.123+48C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.123+48C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.123+48C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.123+48C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.123+48C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.123+48C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.123+48C>T
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-52988293-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988293
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988293
    reference: chr 3
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.123+40C>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.123+40C>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.123+40C>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.123+40C>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.123+40C>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.123+40C>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.123+40C>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/3-52988304-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988304
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988304
    reference: chr 3
allele count: 2
allele frequency: 1.652237129072764e-5
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.123+29G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.123+29G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.123+29G>T
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5265
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

3-52988306-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988306
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988306
    reference: chr 3
allele count: 5
allele frequency: 4.130388091265055e-5
allele num: 121054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.123+27T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.123+27T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.123+27T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.123+27T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.123+27T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.123+27T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.123+27T>C
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

3-52988319-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988319
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988319
    reference: chr 3
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.123+14A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.123+14A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.123+14A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.123+14A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.123+14A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.123+14A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.123+14A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15472
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-52988325-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988325
    reference: chr 3
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.123+8A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.123+8A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.123+8A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.123+8A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.123+8A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.123+8A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.123+8A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: c.123+8A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-52988343-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988343
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988343
    reference: chr 3
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.113C>G
  hgvsp: ENSP00000296295.6:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.113C>G
  hgvsp: ENSP00000419215.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.113C>G
  hgvsp: ENSP00000350789.2:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.113C>G
  hgvsp: ENSP00000378233.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.686C>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.113C>G
  hgvsp: ENSP00000418950.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.113C>G
  hgvsp: ENSP00000378235.2:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.113C>G
  hgvsp: ENSP00000418860.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser38Cys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

3-52988349-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988349
    reference: chr 3
allele count: 5
allele frequency: 4.127251415647236e-5
allele num: 121146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.107A>G
  hgvsp: ENSP00000378233.1:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.107A>G
  hgvsp: ENSP00000350789.2:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.107A>G
  hgvsp: ENSP00000378235.2:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.107A>G
  hgvsp: ENSP00000296295.6:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.107A>G
  hgvsp: ENSP00000419215.1:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.107A>G
  hgvsp: ENSP00000418860.1:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.107A>G
  hgvsp: ENSP00000418950.1:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.680A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15470
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Tyr36Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

3-52988358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988358
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988358
    reference: chr 3
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.98C>T
  hgvsp: ENSP00000418950.1:p.Ala33Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.98C>T
  hgvsp: ENSP00000419215.1:p.Ala33Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.98C>T
  hgvsp: ENSP00000378233.1:p.Ala33Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.671C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.98C>T
  hgvsp: ENSP00000296295.6:p.Ala33Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.98C>T
  hgvsp: ENSP00000350789.2:p.Ala33Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.98C>T
  hgvsp: ENSP00000378235.2:p.Ala33Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.98C>T
  hgvsp: ENSP00000418860.1:p.Ala33Val
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala33Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

3-52988361-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988361
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988361
    reference: chr 3
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.95C>T
  hgvsp: ENSP00000419215.1:p.Thr32Ile
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.95C>T
  hgvsp: ENSP00000418860.1:p.Thr32Ile
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.95C>T
  hgvsp: ENSP00000378233.1:p.Thr32Ile
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.95C>T
  hgvsp: ENSP00000378235.2:p.Thr32Ile
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.95C>T
  hgvsp: ENSP00000296295.6:p.Thr32Ile
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.95C>T
  hgvsp: ENSP00000350789.2:p.Thr32Ile
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.668C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.95C>T
  hgvsp: ENSP00000418950.1:p.Thr32Ile
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17657
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr32Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-52988365-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988365
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988365
    reference: chr 3
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.91T>G
  hgvsp: ENSP00000378233.1:p.Ser31Ala
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.91T>G
  hgvsp: ENSP00000296295.6:p.Ser31Ala
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.91T>G
  hgvsp: ENSP00000418860.1:p.Ser31Ala
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.91T>G
  hgvsp: ENSP00000350789.2:p.Ser31Ala
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.91T>G
  hgvsp: ENSP00000418950.1:p.Ser31Ala
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.91T>G
  hgvsp: ENSP00000378235.2:p.Ser31Ala
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.664T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.91T>G
  hgvsp: ENSP00000419215.1:p.Ser31Ala
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser31Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-52988367-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988367
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988367
    reference: chr 3
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.89G>T
  hgvsp: ENSP00000350789.2:p.Gly30Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.89G>T
  hgvsp: ENSP00000418950.1:p.Gly30Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.89G>T
  hgvsp: ENSP00000378235.2:p.Gly30Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.89G>T
  hgvsp: ENSP00000419215.1:p.Gly30Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.89G>T
  hgvsp: ENSP00000418860.1:p.Gly30Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.89G>T
  hgvsp: ENSP00000378233.1:p.Gly30Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.89G>T
  hgvsp: ENSP00000296295.6:p.Gly30Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.662G>T
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15468
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17635
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly30Val
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: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

3-52988367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988367
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988367
    reference: chr 3
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.662G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.89G>A
  hgvsp: ENSP00000418950.1:p.Gly30Glu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.89G>A
  hgvsp: ENSP00000419215.1:p.Gly30Glu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.89G>A
  hgvsp: ENSP00000350789.2:p.Gly30Glu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.89G>A
  hgvsp: ENSP00000378233.1:p.Gly30Glu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.89G>A
  hgvsp: ENSP00000296295.6:p.Gly30Glu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.89G>A
  hgvsp: ENSP00000418860.1:p.Gly30Glu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.89G>A
  hgvsp: ENSP00000378235.2:p.Gly30Glu
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly30Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-52988370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988370
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988370
    reference: chr 3
allele count: 2
allele frequency: 1.652209830648492e-5
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.86C>T
  hgvsp: ENSP00000378233.1:p.Thr29Ile
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.86C>T
  hgvsp: ENSP00000296295.6:p.Thr29Ile
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.86C>T
  hgvsp: ENSP00000350789.2:p.Thr29Ile
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.659C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.86C>T
  hgvsp: ENSP00000418860.1:p.Thr29Ile
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.86C>T
  hgvsp: ENSP00000378235.2:p.Thr29Ile
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.86C>T
  hgvsp: ENSP00000419215.1:p.Thr29Ile
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.86C>T
  hgvsp: ENSP00000418950.1:p.Thr29Ile
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr29Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-52988378-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988378
    reference: chr 3
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.78A>G
  hgvsp: ENST00000482396.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.78A>G
  hgvsp: ENST00000394750.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.78A>G
  hgvsp: ENST00000497586.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.78A>G
  hgvsp: ENST00000296295.6:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.651A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.78A>G
  hgvsp: ENST00000394752.3:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.78A>G
  hgvsp: ENST00000358080.2:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.78A>G
  hgvsp: ENST00000483069.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15465
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4580
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu26Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-52988381-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988381
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988381
    reference: chr 3
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.75T>C
  hgvsp: ENST00000358080.2:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.75T>C
  hgvsp: ENST00000394750.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.75T>C
  hgvsp: ENST00000296295.6:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.75T>C
  hgvsp: ENST00000483069.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.75T>C
  hgvsp: ENST00000497586.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.648T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.75T>C
  hgvsp: ENST00000482396.1:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.75T>C
  hgvsp: ENST00000394752.3:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr25Tyr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

3-52988382-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988382
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988382
    reference: chr 3
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.647A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.74A>G
  hgvsp: ENSP00000419215.1:p.Tyr25Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.74A>G
  hgvsp: ENSP00000296295.6:p.Tyr25Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.74A>G
  hgvsp: ENSP00000418950.1:p.Tyr25Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.74A>G
  hgvsp: ENSP00000378235.2:p.Tyr25Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.74A>G
  hgvsp: ENSP00000418860.1:p.Tyr25Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.74A>G
  hgvsp: ENSP00000350789.2:p.Tyr25Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.74A>G
  hgvsp: ENSP00000378233.1:p.Tyr25Cys
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr25Cys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-52988383-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988383
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988383
    reference: chr 3
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.73T>G
  hgvsp: ENSP00000418860.1:p.Tyr25Asp
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.73T>G
  hgvsp: ENSP00000378233.1:p.Tyr25Asp
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.73T>G
  hgvsp: ENSP00000296295.6:p.Tyr25Asp
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.73T>G
  hgvsp: ENSP00000419215.1:p.Tyr25Asp
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.73T>G
  hgvsp: ENSP00000418950.1:p.Tyr25Asp
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.646T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.73T>G
  hgvsp: ENSP00000350789.2:p.Tyr25Asp
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.73T>G
  hgvsp: ENSP00000378235.2:p.Tyr25Asp
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5261
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr25Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-52988384-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988384
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988384
    reference: chr 3
allele count: 85
allele frequency: 7.026535504670579e-4
allele num: 120970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.72T>C
  hgvsp: ENST00000482396.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.72T>C
  hgvsp: ENST00000296295.6:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.72T>C
  hgvsp: ENST00000394752.3:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.72T>C
  hgvsp: ENST00000497586.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.72T>C
  hgvsp: ENST00000358080.2:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.72T>C
  hgvsp: ENST00000394750.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.72T>C
  hgvsp: ENST00000483069.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.645T>C
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 9.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp24Asp
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-52988391-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988391
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988391
    reference: chr 3
allele count: 3
allele frequency: 2.481430627471092e-5
allele num: 120898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.65G>T
  hgvsp: ENSP00000418860.1:p.Trp22Leu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.65G>T
  hgvsp: ENSP00000418950.1:p.Trp22Leu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.65G>T
  hgvsp: ENSP00000419215.1:p.Trp22Leu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.65G>T
  hgvsp: ENSP00000296295.6:p.Trp22Leu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.638G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.65G>T
  hgvsp: ENSP00000378233.1:p.Trp22Leu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.65G>T
  hgvsp: ENSP00000378235.2:p.Trp22Leu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.65G>T
  hgvsp: ENSP00000350789.2:p.Trp22Leu
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp22Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

3-52988413-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988413
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988413
    reference: chr 3
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.43A>G
  hgvsp: ENSP00000296295.6:p.Met15Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.43A>G
  hgvsp: ENSP00000350789.2:p.Met15Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.43A>G
  hgvsp: ENSP00000418860.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.43A>G
  hgvsp: ENSP00000378235.2:p.Met15Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.43A>G
  hgvsp: ENSP00000418950.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.616A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.43A>G
  hgvsp: ENSP00000419215.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.43A>G
  hgvsp: ENSP00000378233.1:p.Met15Val
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met15Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

3-52988418-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988418
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988418
    reference: chr 3
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.38C>G
  hgvsp: ENSP00000378233.1:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.38C>G
  hgvsp: ENSP00000418950.1:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.38C>G
  hgvsp: ENSP00000418860.1:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.38C>G
  hgvsp: ENSP00000419215.1:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.611C>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.38C>G
  hgvsp: ENSP00000296295.6:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.38C>G
  hgvsp: ENSP00000378235.2:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.38C>G
  hgvsp: ENSP00000350789.2:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser13Cys
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: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-52988423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988423
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988423
    reference: chr 3
allele count: 13
allele frequency: 1.084110279033307e-4
allele num: 119914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.606C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.33C>T
  hgvsp: ENST00000394752.3:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.33C>T
  hgvsp: ENST00000296295.6:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.33C>T
  hgvsp: ENST00000497586.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.33C>T
  hgvsp: ENST00000483069.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.33C>T
  hgvsp: ENST00000482396.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.33C>T
  hgvsp: ENST00000394750.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.33C>T
  hgvsp: ENST00000358080.2:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala11Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

3-52988423-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988423
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988423
    reference: chr 3
allele count: 5
allele frequency: 4.169654919358874e-5
allele num: 119914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.606C>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.33C>A
  hgvsp: ENST00000482396.1:c.33C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.33C>A
  hgvsp: ENST00000497586.1:c.33C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.33C>A
  hgvsp: ENST00000296295.6:c.33C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.33C>A
  hgvsp: ENST00000358080.2:c.33C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.33C>A
  hgvsp: ENST00000394752.3:c.33C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.33C>A
  hgvsp: ENST00000483069.1:c.33C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.33C>A
  hgvsp: ENST00000394750.1:c.33C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala11Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

3-52988425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988425
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988425
    reference: chr 3
allele count: 32
allele frequency: 2.672323083860839e-4
allele num: 119746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.31G>A
  hgvsp: ENSP00000296295.6:p.Ala11Thr
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.31G>A
  hgvsp: ENSP00000419215.1:p.Ala11Thr
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.31G>A
  hgvsp: ENSP00000418860.1:p.Ala11Thr
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.604G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.31G>A
  hgvsp: ENSP00000350789.2:p.Ala11Thr
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.31G>A
  hgvsp: ENSP00000378233.1:p.Ala11Thr
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.31G>A
  hgvsp: ENSP00000418950.1:p.Ala11Thr
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.31G>A
  hgvsp: ENSP00000378235.2:p.Ala11Thr
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala11Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

3-52988427-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988427
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988427
    reference: chr 3
allele count: 1
allele frequency: 8.358268835358821e-6
allele num: 119642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.602A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.29A>G
  hgvsp: ENSP00000350789.2:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.29A>G
  hgvsp: ENSP00000378233.1:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.29A>G
  hgvsp: ENSP00000419215.1:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.29A>G
  hgvsp: ENSP00000378235.2:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.29A>G
  hgvsp: ENSP00000418860.1:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.29A>G
  hgvsp: ENSP00000296295.6:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.29A>G
  hgvsp: ENSP00000418950.1:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp10Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-52988442-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988442
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988442
    reference: chr 3
allele count: 2
allele frequency: 1.678810059429876e-5
allele num: 119132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.29-15T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.29-15T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.29-15T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.29-15T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.602-15T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.29-15T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.29-15T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.29-15T>C
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

3-52988448-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988448
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988448
    reference: chr 3
allele count: 2
allele frequency: 1.681463545870325e-5
allele num: 118944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.29-21T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.29-21T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.29-21T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.29-21T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.602-21T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.29-21T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.29-21T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.29-21T>C
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15371
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

3-52988456-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988456
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988456
    reference: chr 3
allele count: 2
allele frequency: 1.684976747320887e-5
allele num: 118696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.602-29A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.29-29A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.29-29A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.29-29A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.29-29A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.29-29A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.29-29A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.29-29A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7756
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15361
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

3-52988459-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988459
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988459
    reference: chr 3
allele count: 1
allele frequency: 8.43113449345744e-6
allele num: 118608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.29-32T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.29-32T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.29-32T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.29-32T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.29-32T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.29-32T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.602-32T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.29-32T>C
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15359
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

3-52988460-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988460
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988460
    reference: chr 3
allele count: 1
allele frequency: 8.433125316242199e-6
allele num: 118580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.29-33A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.29-33A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.29-33A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.29-33A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.29-33A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.602-33A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.29-33A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.29-33A>T
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-52988461-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988461
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988461
    reference: chr 3
allele count: 1
allele frequency: 8.436825053995681e-6
allele num: 118528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.29-34G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.602-34G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.29-34G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.29-34G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.29-34G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.29-34G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.29-34G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.29-34G>T
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

3-52988462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988462
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988462
    reference: chr 3
allele count: 308
allele frequency: 2.598892939111651e-3
allele num: 118512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.29-35G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.29-35G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.29-35G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.29-35G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.29-35G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.29-35G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.602-35G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.29-35G>A
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10010
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 12095
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 4.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 2
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

3-52988464-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52988464
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52988464
    reference: chr 3
allele count: 1
allele frequency: 8.447658309116713e-6
allele num: 118376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.602-37T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.29-37T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.29-37T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.29-37T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.29-37T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.29-37T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.29-37T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.29-37T>C
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9976
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-53003067-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003067
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003067
    reference: chr 3
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.28+50A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.28+50A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.28+50A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.601+50A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.28+50A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.28+50A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.28+50A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.28+50A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

3-53003068-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003068
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003068
    reference: chr 3
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.28+49T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.28+49T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.601+49T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.28+49T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.28+49T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.28+49T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.28+49T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.28+49T>C
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50628
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-53003072-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003072
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003072
    reference: chr 3
allele count: 769
allele frequency: 6.340176436639459e-3
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.28+45A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.601+45A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.28+45A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.28+45A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.28+45A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.28+45A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.28+45A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.28+45A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50629
  bin: 9.75e1
  variant carriers: 693
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54210
  bin: 9.75e1
  variant carriers: 766
num of homozygotes: 2
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

3-53003075-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003075
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003075
    reference: chr 3
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.28+42A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.28+42A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.28+42A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.28+42A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.28+42A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.28+42A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.28+42A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.601+42A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50622
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54164
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

3-53003080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003080
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003080
    reference: chr 3
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.28+37G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.28+37G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.28+37G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.28+37G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.28+37G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.601+37G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.28+37G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.28+37G>A
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

3-53003085-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003085
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003085
    reference: chr 3
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.28+32A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.28+32A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.28+32A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.28+32A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.28+32A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.28+32A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.28+32A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.601+32A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50621
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54168
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

3-53003089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003089
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003089
    reference: chr 3
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.28+28C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.28+28C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.28+28C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.601+28C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.28+28C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.28+28C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.28+28C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.28+28C>T
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-53003114-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003114
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003114
    reference: chr 3
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.28+3A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.28+3A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.28+3A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.28+3A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.28+3A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.28+3A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.28+3A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.601+3A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50621
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54173
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: c.28+3A>G
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-53003132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003132
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003132
    reference: chr 3
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.13C>T
  hgvsp: ENSP00000378235.2:p.Gln5Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.13C>T
  hgvsp: ENSP00000296295.6:p.Gln5Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.13C>T
  hgvsp: ENSP00000378233.1:p.Gln5Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.13C>T
  hgvsp: ENSP00000418860.1:p.Gln5Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.13C>T
  hgvsp: ENSP00000350789.2:p.Gln5Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.13C>T
  hgvsp: ENSP00000418950.1:p.Gln5Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.13C>T
  hgvsp: ENSP00000419215.1:p.Gln5Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.586C>T
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50621
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln5Ter
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-53003135-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003135
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003135
    reference: chr 3
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.10G>T
  hgvsp: ENSP00000419215.1:p.Glu4Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.10G>T
  hgvsp: ENSP00000296295.6:p.Glu4Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.10G>T
  hgvsp: ENSP00000350789.2:p.Glu4Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*722G>T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.10G>T
  hgvsp: ENSP00000418950.1:p.Glu4Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.10G>T
  hgvsp: ENSP00000378235.2:p.Glu4Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.10G>T
  hgvsp: ENSP00000378233.1:p.Glu4Ter
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.583G>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.10G>T
  hgvsp: ENSP00000418860.1:p.Glu4Ter
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50621
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu4Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

3-53003137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003137
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003137
    reference: chr 3
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.8G>A
  hgvsp: ENSP00000418860.1:p.Gly3Glu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*720G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.8G>A
  hgvsp: ENSP00000350789.2:p.Gly3Glu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.8G>A
  hgvsp: ENSP00000419215.1:p.Gly3Glu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.8G>A
  hgvsp: ENSP00000378235.2:p.Gly3Glu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.581G>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.8G>A
  hgvsp: ENSP00000378233.1:p.Gly3Glu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.8G>A
  hgvsp: ENSP00000296295.6:p.Gly3Glu
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.8G>A
  hgvsp: ENSP00000418950.1:p.Gly3Glu
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54177
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly3Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

3-53003139-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003139
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003139
    reference: chr 3
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.6C>T
  hgvsp: ENST00000497586.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.579C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.6C>T
  hgvsp: ENST00000296295.6:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.6C>T
  hgvsp: ENST00000358080.2:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.6C>T
  hgvsp: ENST00000394752.3:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*718C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.6C>T
  hgvsp: ENST00000394750.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.6C>T
  hgvsp: ENST00000483069.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.6C>T
  hgvsp: ENST00000482396.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50621
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn2Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-53003155-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003155
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003155
    reference: chr 3
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.-11A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.-11A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.-11A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.-11A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.-11A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*702A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.563A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.-11A>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.-11A>T
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

3-53003155-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003155
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003155
    reference: chr 3
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*702A>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.-11A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.-11A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.-11A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.-11A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.-11A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.-11A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.563A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.-11A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50622
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54178
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-53003157-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003157
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003157
    reference: chr 3
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*700A>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.561A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.-13A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.-13A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.-13A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50621
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

3-53003164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003164
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003164
    reference: chr 3
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.554C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.-20C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*693C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.-20C>T
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.-20C>T
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-53003167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003167
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003167
    reference: chr 3
allele count: 85
allele frequency: 7.00245497833358e-4
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*690T>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.-23T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.-23T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.-23T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.-23T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.551T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.-23T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.-23T>C
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.-23T>C
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50624
  bin: 9.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/3-53003179-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003179
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003179
    reference: chr 3
allele count: 10517
allele frequency: 8.664810176641181e-2
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.539T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.-35T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.-35T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.-35T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*678T>G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.-35T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.-35T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.-35T>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.-35T>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 2.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 50735
  bin: 9.75e1
  variant carriers: 8563
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 179
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 533
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS

3-53003191-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003191
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003191
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.-47C>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.-47C>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.-47C>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*666C>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.-47C>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.-47C>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.-47C>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.527C>A
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.-47C>A
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

3-53003196-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53003196
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53003196
    reference: chr 3
allele count: 19
allele frequency: 1.565615781407077e-4
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000419215
  ensembl transcript: ENST00000497586
  gene symbol: SFMBT1
  hgvsc: ENST00000497586.1:c.-52A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378233
  ensembl transcript: ENST00000394750
  gene symbol: SFMBT1
  hgvsc: ENST00000394750.1:c.-52A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000350789
  ensembl transcript: ENST00000358080
  gene symbol: SFMBT1
  hgvsc: ENST00000358080.2:c.-52A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418860
  ensembl transcript: ENST00000482396
  gene symbol: SFMBT1
  hgvsc: ENST00000482396.1:c.-52A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*661A>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000296295
  ensembl transcript: ENST00000296295
  gene symbol: SFMBT1
  hgvsc: ENST00000296295.6:c.-52A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000418950
  ensembl transcript: ENST00000483069
  gene symbol: SFMBT1
  hgvsc: ENST00000483069.1:c.-52A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163935
  ensembl transcript: ENST00000470575
  gene symbol: SFMBT1
  hgvsc: ENST00000470575.1:n.522A>G
  variant of: http://identifiers.org/hgnc/20255
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163935
  ensembl protein: ENSP00000378235
  ensembl transcript: ENST00000394752
  gene symbol: SFMBT1
  hgvsc: ENST00000394752.3:c.-52A>G
  variant of: http://identifiers.org/hgnc/20255
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50589
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

3-53111757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53111757
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53111757
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 36
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475866
  ensembl transcript: ENST00000607203
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607203.1:c.*187C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475819
  ensembl transcript: ENST00000607283
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607283.1:c.*40C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*293C>T
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: FS

3-53111814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53111814
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53111814
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 16
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475866
  ensembl transcript: ENST00000607203
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607203.1:c.*130C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475819
  ensembl transcript: ENST00000607283
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607283.1:c.354C>T
  hgvsp: ENSP00000475819.1:p.Pro119Ser
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*236C>T
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Pro119Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-53111862-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53111862
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53111862
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 8
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*206-18C>G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475819
  ensembl transcript: ENST00000607283
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607283.1:c.324-18C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475866
  ensembl transcript: ENST00000607203
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607203.1:c.*100-18C>G
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

3-53111868-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53111868
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53111868
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 10
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475866
  ensembl transcript: ENST00000607203
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607203.1:c.*100-24A>G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475819
  ensembl transcript: ENST00000607283
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607283.1:c.324-24A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*206-24A>G
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

3-53112174-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53112174
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53112174
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 6
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475866
  ensembl transcript: ENST00000607203
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607203.1:c.*100-330G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.*26G>C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475819
  ensembl transcript: ENST00000607283
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607283.1:c.324-330G>C
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

3-53119837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53119837
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53119837
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 8
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.74-7610C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475866
  ensembl transcript: ENST00000607203
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607203.1:c.*28C>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475819
  ensembl transcript: ENST00000607283
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607283.1:c.323+6548C>T
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-53119915-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53119915
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53119915
    reference: chr 3
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475866
  ensembl transcript: ENST00000607203
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607203.1:c.74-47G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.74-7688G>C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475819
  ensembl transcript: ENST00000607283
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607283.1:c.323+6470G>C
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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: 2367
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

3-53125874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53125874
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53125874
    reference: chr 3
allele count: 4
allele frequency: 3.306331625061994e-5
allele num: 120980
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163933
  ensembl protein: ENSP00000296292
  ensembl transcript: ENST00000296292
  gene symbol: RFT1
  hgvsc: ENST00000296292.3:c.*45G>A
  variant of: http://identifiers.org/hgnc/30220
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163933
  ensembl protein: ENSP00000378223
  ensembl transcript: ENST00000394738
  gene symbol: RFT1
  hgvsc: ENST00000394738.3:c.*45G>A
  variant of: http://identifiers.org/hgnc/30220
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475819
  ensembl transcript: ENST00000607283
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607283.1:c.323+511G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.73+7523G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475866
  ensembl transcript: ENST00000607203
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607203.1:c.74-6006G>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

3-53125875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53125875
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53125875
    reference: chr 3
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475866
  ensembl transcript: ENST00000607203
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607203.1:c.74-6007G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163933
  ensembl protein: ENSP00000378223
  ensembl transcript: ENST00000394738
  gene symbol: RFT1
  hgvsc: ENST00000394738.3:c.*44G>A
  variant of: http://identifiers.org/hgnc/30220
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475819
  ensembl transcript: ENST00000607283
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607283.1:c.323+510G>A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163933
  ensembl protein: ENSP00000296292
  ensembl transcript: ENST00000296292
  gene symbol: RFT1
  hgvsc: ENST00000296292.3:c.*44G>A
  variant of: http://identifiers.org/hgnc/30220
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.73+7522G>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20107
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

3-53125878-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53125878
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53125878
    reference: chr 3
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475958
  ensembl transcript: ENST00000607495
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607495.1:c.73+7519A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475866
  ensembl transcript: ENST00000607203
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607203.1:c.74-6010A>C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475819
  ensembl transcript: ENST00000607283
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607283.1:c.323+507A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163933
  ensembl protein: ENSP00000378223
  ensembl transcript: ENST00000394738
  gene symbol: RFT1
  hgvsc: ENST00000394738.3:c.*41A>C
  variant of: http://identifiers.org/hgnc/30220
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163933
  ensembl protein: ENSP00000296292
  ensembl transcript: ENST00000296292
  gene symbol: RFT1
  hgvsc: ENST00000296292.3:c.*41A>C
  variant of: http://identifiers.org/hgnc/30220
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

3-53125896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53125896
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 53125896
    reference: chr 3
allele count: 4
allele frequency: 3.302400845414616e-5
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163933
  ensembl protein: ENSP00000378223
  ensembl transcript: ENST00000394738
  gene symbol: RFT1
  hgvsc: ENST00000394738.3:c.*23G>A
  variant of: http://identifiers.org/hgnc/30220
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272305
  ensembl protein: ENSP00000475866
  ensembl transcript: ENST00000607203
  gene symbol: RP11-894J14.5
  hgvsc: ENST00000607203.1:c.74-6028G>A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163933
  ensembl protein: ENSP00000296292
  ensembl transcript: ENST00000296292
  gene symbol: RFT1
  hgvsc: ENST00000296292.3:c.*23G>A
  variant of: http://identifiers.org/hgnc/30220
canonical: true
consequence: 3' UTR
filter: PASS
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47735
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 764
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.75e1
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: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.665131e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 1.0226e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.281e1

QD
type: SiteQuality
SIO_000300: 1.097e1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.422e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.614e0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.664647e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 1.054e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.051e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.614e0

FS
type: SiteQuality
SIO_000300: 4.131e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 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: 6614
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: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.663691e6

FS
type: SiteQuality
SIO_000300: 7.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -8.713e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.141e0

QD
type: SiteQuality
SIO_000300: 9.76e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00724746639401e-5
allele num: 66506
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
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

DP
type: SiteQuality
SIO_000300: 3.662048e6

VQSLOD
type: SiteQuality
SIO_000300: -2.529e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.41e-1

FS
type: SiteQuality
SIO_000300: 9.414e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 3.657661e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.88e-1

FS
type: SiteQuality
SIO_000300: 3.765e0

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.021e0

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.816e0

DP
type: SiteQuality
SIO_000300: 3.657185e6

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: 4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.155e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

FS
type: SiteQuality
SIO_000300: 3.163e0

DP
type: SiteQuality
SIO_000300: 2.526308e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.862e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.320724065908564e-4
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
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: 16494
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.263e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.74e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 2.527026e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
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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: 8624
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 8.070000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

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

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

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

African
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allele num: 10288
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
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: 3
allele frequency: 2.596952908587258e-4
allele num: 11552
num of homozygotes: 0

MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -5.125e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10312
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.534727e6

FS
type: SiteQuality
SIO_000300: 2.55e0

ReadPosRankSum
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SIO_000300: -5.629999999999999e-1

QD
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SIO_000300: 1.38e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

VQSLOD
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SIO_000300: -1.673e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

MQ
type: SiteQuality
SIO_000300: 5.767e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

GenotypeQuality
all individuals: 16
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

QD
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ClippingRankSum
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DP
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FS
type: SiteQuality
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MQ
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InbreedingCoeff
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SIO_000300: 9.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

VQSLOD
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SIO_000300: 3.01e0

BaseQRankSum
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SIO_000300: 5.16e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 906
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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66612
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African
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allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

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

VQSLOD
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SIO_000300: -1.068e0

ReadPosRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.74e-1

BaseQRankSum
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SIO_000300: -2.805e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

MQRankSum
type: SiteQuality
SIO_000300: -9.23e-1

DP
type: SiteQuality
SIO_000300: 2.535579e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.021e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

Other
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East Asian
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allele count: 4
allele frequency: 4.631773969430292e-4
allele num: 8636
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 3.626e0

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.24e-1

BaseQRankSum
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SIO_000300: 5.02e0

ClippingRankSum
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SIO_000300: -1.483e0

QD
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DP
type: SiteQuality
SIO_000300: 2.536012e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.249e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.535056e6

FS
type: SiteQuality
SIO_000300: 1.805e0

ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.926e1

DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10312
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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Other
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allele frequency: 0.0e0
allele num: 906
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele num: 66594
num of homozygotes: 0

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

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

Latino
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66594
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Other
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African
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MQRankSum
type: SiteQuality
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 4579
bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213739531496541e-4
allele num: 16478
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 2.534264e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 2.47e0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.464e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

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

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

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.533599e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

FS
type: SiteQuality
SIO_000300: 5.651e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.266e0

VQSLOD
type: SiteQuality
SIO_000300: -6.394e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
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: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.533291e6

QD
type: SiteQuality
SIO_000300: 1.515e1

MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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variant carriers: 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: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
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: 10294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 4.27e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 2.533181e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3581
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 2.533356e6

QD
type: SiteQuality
SIO_000300: 1.347e1

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15488
bin: 9.75e1
variant carriers: 84

African
type: Population
allele count: 79
allele frequency: 7.674373421410531e-3
allele num: 10294
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: 6
allele frequency: 5.198405822214521e-4
allele num: 11542
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e0

QD
type: SiteQuality
SIO_000300: 1.324e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.541016e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.821714840903571e-4
allele num: 16468
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
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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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: 66500
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 1.188e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

DP
type: SiteQuality
SIO_000300: 2.531109e6

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.546e0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15421
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.177e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.083e-1

FS
type: SiteQuality
SIO_000300: 9.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.466e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.525227e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7
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GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510072181450273e-5
allele num: 66222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 8.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 2.52292e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.246e1

GenotypeQuality
all individuals: 5257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3162
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15422
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3581
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4574
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16779
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.060913705583756e-4
allele num: 9850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.361696977032711e-4
allele num: 66094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 7.88e-1

DP
type: SiteQuality
SIO_000300: 2.520129e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.432e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

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

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3581
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15422
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 178
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8401
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3162
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.042843232716651e-4
allele num: 16432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 7.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

DP
type: SiteQuality
SIO_000300: 2.520129e6

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

GenotypeQuality
all individuals: 16712
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8397
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2195
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3161
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15412
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.232142857142857e-3
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.567398119122257e-3
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.514187941007238e-4
allele num: 66042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.049180327868852e-4
allele num: 9760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.817e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

QD
type: SiteQuality
SIO_000300: 1.206e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

DP
type: SiteQuality
SIO_000300: 2.518797e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3586
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 231
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8399
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.028171910343409e-4
allele num: 9726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.426e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 3.715e0

MQ
type: SiteQuality
SIO_000300: 5.75e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: -3.707e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 2.74e0

DP
type: SiteQuality
SIO_000300: 2.515633e6

GenotypeQuality
all individuals: 3146
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15374
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.735150244584206e-5
allele num: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.676e1

DP
type: SiteQuality
SIO_000300: 2.507596e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

FS
type: SiteQuality
SIO_000300: 3.998e0

VQSLOD
type: SiteQuality
SIO_000300: -2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
all individuals: 1180
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15998
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3579
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8286
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4565
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5243
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047572608417395e-5
allele num: 65626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

QD
type: SiteQuality
SIO_000300: 1.616e1

FS
type: SiteQuality
SIO_000300: 1.747e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 2.502265e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.418e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3579
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526950679493052e-5
allele num: 65490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.050861706599412e-4
allele num: 9516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.424e1

DP
type: SiteQuality
SIO_000300: 2.491313e6

VQSLOD
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.592e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 2.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15033
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5198
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4549
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528023959415684e-5
allele num: 65444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.633e-1

QD
type: SiteQuality
SIO_000300: 1.569e1

MQ
type: SiteQuality
SIO_000300: 5.815e1

DP
type: SiteQuality
SIO_000300: 2.484727e6

GenotypeQuality
all individuals: 591
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15077
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
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variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4543
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528350909368791e-5
allele num: 65430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.061e0

VQSLOD
type: SiteQuality
SIO_000300: -1.856e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

DP
type: SiteQuality
SIO_000300: 2.484509e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

QD
type: SiteQuality
SIO_000300: 5.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.95e-1

GenotypeQuality
all individuals: 14934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 3575
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7989
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15353
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2183
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528911720637251e-5
allele num: 65406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.377e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 2.482252e6

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

QD
type: SiteQuality
SIO_000300: 1.433e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.82e-1

GenotypeQuality
all individuals: 299
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 94
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 306

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3564
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 7967
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 299
allele frequency: 3.15068493150685e-2
allele num: 9490
num of homozygotes: 2

Latino
type: Population
allele count: 7
allele frequency: 6.130670870555263e-4
allele num: 11418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529426159305029e-5
allele num: 65384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.174e0

DP
type: SiteQuality
SIO_000300: 2.481416e6

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

QD
type: SiteQuality
SIO_000300: 1.5e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15230
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variant carriers: 1

GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 491
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4515
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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
all individuals: 7793
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variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.196172248803828e-4
allele num: 8360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65302
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.663e-1

DP
type: SiteQuality
SIO_000300: 2.466739e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.407e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

GenotypeQuality
all individuals: 135
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variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 916
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variant carriers: 0

GenotypeQuality
all individuals: 54165
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variant carriers: 1

GenotypeQuality
all individuals: 1447
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variant carriers: 0

GenotypeQuality
all individuals: 521
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variant carriers: 0

GenotypeQuality
all individuals: 446
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variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 8650
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.73e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

QD
type: SiteQuality
SIO_000300: 1.576e1

DP
type: SiteQuality
SIO_000300: 9.768219e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 306
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 340
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GenotypeQuality
all individuals: 54166
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variant carriers: 1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1538
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GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 141
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
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: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.207e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

FS
type: SiteQuality
SIO_000300: 1.1862e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

QD
type: SiteQuality
SIO_000300: 1.735e1

DP
type: SiteQuality
SIO_000300: 9.768388e6

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

GenotypeQuality
all individuals: 282
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 764
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GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 590
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GenotypeQuality
all individuals: 53
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GenotypeQuality
all individuals: 1808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 1

Latino
type: Population
allele count: 21
allele frequency: 1.814725198755617e-3
allele num: 11572
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 142
allele frequency: 2.147610405323654e-2
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 527
allele frequency: 7.905790579057905e-3
allele num: 66660
num of homozygotes: 1

African
type: Population
allele count: 9
allele frequency: 8.650519031141869e-4
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 58
allele frequency: 3.518136600752153e-3
allele num: 16486
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.324503311258278e-2
allele num: 906
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.75e0

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 9.777972e6

GenotypeQuality
all individuals: 934
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variant carriers: 0

GenotypeQuality
all individuals: 112
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GenotypeQuality
all individuals: 520
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 305
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GenotypeQuality
all individuals: 198
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GenotypeQuality
all individuals: 175
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GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
all individuals: 599
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 111
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GenotypeQuality
all individuals: 777
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variant carriers: 0

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

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: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.712765e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.23e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 1.56e1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 126
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GenotypeQuality
all individuals: 777
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 2181
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GenotypeQuality
all individuals: 54164
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 606
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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: 11570
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: 16482
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.824e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

QD
type: SiteQuality
SIO_000300: 1.1e1

DP
type: SiteQuality
SIO_000300: 9.715194e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 2424
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variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

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

GenotypeQuality
all individuals: 990
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.25e1
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GenotypeQuality
all individuals: 794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 9.717482e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 1.185e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.75e1
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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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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54169
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 542
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 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: 16500
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: 10404
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: 11572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

QD
type: SiteQuality
SIO_000300: 1.29e1

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 1.965e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.888e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.804e0

DP
type: SiteQuality
SIO_000300: 9.718687e6

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

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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GenotypeQuality
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bin: 3.75e1
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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: 812
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variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e0

VQSLOD
type: SiteQuality
SIO_000300: 8.27e-1

FS
type: SiteQuality
SIO_000300: 1.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.171e1

DP
type: SiteQuality
SIO_000300: 9.720981e6

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.009e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.816e0

DP
type: SiteQuality
SIO_000300: 9.72122e6

FS
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.898e1

MQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.452e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
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: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.372e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.405e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

FS
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 9.721208e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

MQRankSum
type: SiteQuality
SIO_000300: 2.91e0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

FS
type: SiteQuality
SIO_000300: 1.994e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.72105e6

GenotypeQuality
all individuals: 814
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 9.721149e6

QD
type: SiteQuality
SIO_000300: 1.326e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

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

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.4e0

GenotypeQuality
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variant carriers: 0

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

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: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

Latino
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: 908
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 9.721051e6

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.505e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 635
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.022999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.908e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.960000000000001e0

QD
type: SiteQuality
SIO_000300: 1.826e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

FS
type: SiteQuality
SIO_000300: 1.3573e1

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

DP
type: SiteQuality
SIO_000300: 9.720819e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 549
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
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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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 7.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 8.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

QD
type: SiteQuality
SIO_000300: 1.103e1

DP
type: SiteQuality
SIO_000300: 9.720581e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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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: 85

GenotypeQuality
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GenotypeQuality
all individuals: 8
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variant carriers: 0

African
type: Population
allele count: 78
allele frequency: 7.495675571785508e-3
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.501e1

DP
type: SiteQuality
SIO_000300: 9.721124e6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 53
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GenotypeQuality
all individuals: 2194
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variant carriers: 0

Latino
type: Population
allele count: 665
allele frequency: 5.743651753325272e-2
allele num: 11578
num of homozygotes: 24

African
type: Population
allele count: 1488
allele frequency: 1.429944262925235e-1
allele num: 10406
num of homozygotes: 114

European (Non-Finnish)
type: Population
allele count: 6393
allele frequency: 9.583270873931944e-2
allele num: 66710
num of homozygotes: 324

East Asian
type: Population
allele count: 438
allele frequency: 5.061243355673677e-2
allele num: 8654
num of homozygotes: 7

European (Finnish)
type: Population
allele count: 379
allele frequency: 5.73026912609616e-2
allele num: 6614
num of homozygotes: 14

South Asian
type: Population
allele count: 1090
allele frequency: 6.603659275415001e-2
allele num: 16506
num of homozygotes: 48

Other
type: Population
allele count: 64
allele frequency: 7.048458149779736e-2
allele num: 908
num of homozygotes: 2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 1.68e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.49e0

DP
type: SiteQuality
SIO_000300: 9.711912e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 623
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

DP
type: SiteQuality
SIO_000300: 9.312449e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 15
allele frequency: 1.441476071497213e-3
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.997001499250375e-5
allele num: 66700
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.41e-2

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 9.312881e6

GenotypeQuality
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variant carriers: 0

Other
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
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African
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allele frequency: 0.0e0
allele num: 14
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 4
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.158e-1

VQSLOD
type: SiteQuality
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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
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SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
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Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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South Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.619e-1

FS
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DP
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ClippingRankSum
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MQ
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.113e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

East Asian
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allele num: 0
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African
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allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
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allele frequency: NaN
allele num: 0
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 0

East Asian
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allele num: 0
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South Asian
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allele count: 0
allele frequency: NaN
allele num: 0
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African
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allele frequency: 0.0e0
allele num: 8
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Other
type: Population
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Latino
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allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.134e-1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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Latino
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allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.68e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 6.547e3

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.138e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: NaN
allele num: 0
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East Asian
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allele frequency: NaN
allele num: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.157e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-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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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 6.008893161879582e-5
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6558
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VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.235e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.389331e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

VQSLOD
type: SiteQuality
SIO_000300: -1.001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

FS
type: SiteQuality
SIO_000300: 3.942e0

MQRankSum
type: SiteQuality
SIO_000300: -9.57e-1

DP
type: SiteQuality
SIO_000300: 2.391396e6

QD
type: SiteQuality
SIO_000300: 2.058e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

DP
type: SiteQuality
SIO_000300: 2.397038e6

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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