http://identifiers.org/exac.variant/1-183387325-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387325
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387325
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.78G>T
  hgvsp: ENSP00000287713.6:p.Gln26His
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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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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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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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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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
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
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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
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genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln26His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-183387326-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387326
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387326
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.77A>G
  hgvsp: ENSP00000287713.6:p.Gln26Arg
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  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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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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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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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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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
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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
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hgvs: p.Gln26Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

1-183387337-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387337
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387337
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.66A>G
  hgvsp: ENST00000287713.6:c.66A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 5.75e1
  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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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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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Lys22Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-183387345-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387345
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387345
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.58A>G
  hgvsp: ENSP00000287713.6:p.Ile20Val
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ile20Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.512401693889897e-4
  allele num: 6612
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-183387351-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387351
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387351
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.52A>G
  hgvsp: ENSP00000287713.6:p.Asn18Asp
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 8.25e1
  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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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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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  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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  bin: 8.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn18Asp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

1-183387361-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387361
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387361
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.42C>A
  hgvsp: ENSP00000287713.6:p.Cys14Ter
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3348
  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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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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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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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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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
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genotype quality: GenotypeQuality
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hgvs: p.Cys14Ter
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-183387370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387370
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387370
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.33G>A
  hgvsp: ENST00000287713.6:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  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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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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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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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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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
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genotype quality: GenotypeQuality
  all individuals: 2951
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hgvs: p.Leu11Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

1-183387382-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387382
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387382
    reference: chr 1
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.21C>A
  hgvsp: ENST00000287713.6:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
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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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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Thr7Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 2.31107002542177e-4
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-183387391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387391
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387391
    reference: chr 1
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.12C>T
  hgvsp: ENST00000287713.6:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37694
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr4Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498576352465158e-5
  allele num: 66730
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-183387397-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387397
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387397
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.6C>G
  hgvsp: ENST00000287713.6:c.6C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1955
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr2Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.155535012710885e-4
  allele num: 8654
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-183387407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387407
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.-5G>A
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  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
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 6725
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66728
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

1-183387415-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387415
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387414
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.-14delG
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.75e1
  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: 2261
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2906
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: TC
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-183387417-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387417
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387417
    reference: chr 1
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.-15G>A
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4061
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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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  bin: 5.25e1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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  bin: 6.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1951
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66724
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

1-183387422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387422
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387422
    reference: chr 1
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.-20G>A
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498800959232614e-5
  allele num: 66720
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-183387422-CGGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387422
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387419
    reference: chr 1
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.-23_-21delACC
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37691
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66720
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: CGGT
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-183387435-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387435
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387435
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.-33C>A
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498980693128672e-5
  allele num: 66712
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16504
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

1-183387443-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183387443
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183387443
    reference: chr 1
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000157064
  ensembl protein: ENSP00000287713
  ensembl transcript: ENST00000287713
  gene symbol: NMNAT2
  hgvsc: ENST00000287713.6:c.-41A>G
  variant of: http://identifiers.org/hgnc/16789
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.499250374812594e-5
  allele num: 66700
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

1-183441736-C-CGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183441736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183441739
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 3646
alternate allele: CGCG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.-6_-4dupCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.-195_-193dupCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.-6_-4dupCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-100_-98dupCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.49_51dupCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.-6_-4dupCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-100_-98dupCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.-6_-4dupCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.-6_-4dupCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-132_-130dupCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.-58_-56dupCGG
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

1-183441736-C-CGCGGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183441736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183441742
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 3646
alternate allele: CGCGGCG
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.-9_-4dupCGGCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.-9_-4dupCGGCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-135_-130dupCGGCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.-198_-193dupCGGCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-103_-98dupCGGCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.-9_-4dupCGGCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.-9_-4dupCGGCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.-61_-56dupCGGCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.46_51dupCGGCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.-9_-4dupCGGCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-103_-98dupCGGCGG
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-183441736-CGCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183441736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183441733
    reference: chr 1
allele count: 37
allele frequency: 1.014810751508502e-2
allele num: 3646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.-58_-56delCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.-6_-4delCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.-195_-193delCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-132_-130delCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.-6_-4delCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-100_-98delCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.-6_-4delCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.-6_-4delCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.49_51delCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-100_-98delCGG
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.-6_-4delCGG
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: CGCG
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-183441779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183441779
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183441779
    reference: chr 1
allele count: 1
allele frequency: 1.342281879194631e-4
allele num: 7450
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-103C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.-166C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.24C>T
  hgvsp: ENST00000440812.3:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-71C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.24C>T
  hgvsp: ENST00000515829.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-71C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.24C>T
  hgvsp: ENST00000444547.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.-29C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.78C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.24C>T
  hgvsp: ENST00000347615.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.24C>T
  hgvsp: ENST00000507469.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr8Tyr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

1-183441792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183441792
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183441792
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 7850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.-24+8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.29+8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-66+8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.29+8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.29+8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-98+8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.83+8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-66+8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.-161+8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.29+8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.29+8C>T
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.29+8C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-183441794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183441794
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183441794
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 7926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.-161+10G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.29+10G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-66+10G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.83+10G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-98+10G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.-24+10G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.29+10G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-66+10G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.29+10G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.29+10G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.29+10G>A
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

1-183441836-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183441836
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183441836
    reference: chr 1
allele count: 2
allele frequency: 2.656748140276302e-4
allele num: 7528
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.29+52G>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.-161+52G>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-66+52G>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.29+52G>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-66+52G>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.29+52G>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.83+52G>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.-24+52G>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.29+52G>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-98+52G>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.29+52G>C
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-183471406-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183471406
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183471406
    reference: chr 1
allele count: 1
allele frequency: 8.380824673147838e-5
allele num: 11932
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.-5A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-13603A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-10566A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-10566A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.-5A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.-5A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-10566A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-10566A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-10566A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-13603A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-10566A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-10566A>G
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

1-183471455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183471455
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183471455
    reference: chr 1
allele count: 1
allele frequency: 8.140670791273201e-5
allele num: 12284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-10517C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-10517C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-10517C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.45C>T
  hgvsp: ENST00000507691.2:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.45C>T
  hgvsp: ENST00000502375.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.45C>T
  hgvsp: ENST00000367537.3:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-10517C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-10517C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-13554C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.33C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-10517C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-10517C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-13554C>T
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn15Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

1-183471456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183471456
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183471456
    reference: chr 1
allele count: 1
allele frequency: 8.141996417521577e-5
allele num: 12282
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-10516G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-13553G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.46G>A
  hgvsp: ENSP00000356507.3:p.Val16Ile
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.46G>A
  hgvsp: ENSP00000422742.2:p.Val16Ile
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-10516G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-10516G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-13553G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.46G>A
  hgvsp: ENSP00000422056.1:p.Val16Ile
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-10516G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.34G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-10516G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-10516G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-10516G>A
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val16Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

1-183471523-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183471523
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183471523
    reference: chr 1
allele count: 1
allele frequency: 8.418925745074928e-5
allele num: 11878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-10449T>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.113T>C
  hgvsp: ENSP00000422056.1:p.Ile38Thr
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-10449T>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-10449T>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.113T>C
  hgvsp: ENSP00000356507.3:p.Ile38Thr
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-10449T>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.101T>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-10449T>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.113T>C
  hgvsp: ENSP00000422742.2:p.Ile38Thr
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-13486T>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-10449T>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-13486T>C
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-10449T>C
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile38Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-183481923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481923
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481923
    reference: chr 1
allele count: 6
allele frequency: 6.018537094250291e-5
allele num: 99692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-49G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-49G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-49G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-49G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3086G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-49G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-49G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3086G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-49G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-49G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-49G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-49G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-49G>A
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12421
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8350
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

1-183481941-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481941
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481942
    reference: chr 1
allele count: 1
allele frequency: 1.003975743946026e-5
allele num: 99604
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-30dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-30dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-30dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-30dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-30dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-30dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3067dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-30dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3067dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-30dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-30dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-30dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-30dupT
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-183481942-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481942
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481943
    reference: chr 1
allele count: 1
allele frequency: 9.886893933401882e-6
allele num: 101144
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-29dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-29dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-29dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-29dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-29dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-29dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3066dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3066dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-29dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-29dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-29dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-29dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-29dupC
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

1-183481943-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481944
    reference: chr 1
allele count: 746
allele frequency: 5.944223107569721e-2
allele num: 12550
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-9dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-9dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-9dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-9dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-9dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-9dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-9dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3046dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-9dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-9dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3046dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-9dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-9dupT
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 9.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 7.5e0
  variant carriers: 679
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 2.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 1.25e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 2.75e1
  variant carriers: 94
genotype quality: GenotypeQuality
num of homozygotes: 138
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-183481943-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481945
    reference: chr 1
allele count: 299
allele frequency: 2.382470119521912e-2
allele num: 12550
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3047_-65-3046dupTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-10_84-9dupTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-10_30-9dupTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3047_-65-3046dupTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-10_117-9dupTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-10_30-9dupTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-10_-97-9dupTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-10_30-9dupTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-10_30-9dupTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-10_30-9dupTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-10_105-9dupTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-10_117-9dupTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-10_117-9dupTT
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 7.5e0
  variant carriers: 276
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 1.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 1.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 2.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 2.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
num of homozygotes: 53
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-183481943-C-CTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481946
    reference: chr 1
allele count: 183
allele frequency: 1.458167330677291e-2
allele num: 12550
alternate allele: CTTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-11_117-9dupTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3048_-65-3046dupTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3048_-65-3046dupTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-11_117-9dupTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-11_30-9dupTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-11_117-9dupTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-11_30-9dupTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-11_30-9dupTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-11_30-9dupTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-11_84-9dupTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-11_30-9dupTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-11_105-9dupTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-11_-97-9dupTTT
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 7.5e0
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 2.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 2.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
num of homozygotes: 34
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-183481943-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481942
    reference: chr 1
allele count: 681
allele frequency: 5.426294820717131e-2
allele num: 12550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-9delT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-9delT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-9delT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-9delT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3046delT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3046delT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-9delT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-9delT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-9delT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-9delT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-9delT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-9delT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-9delT
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 1.75e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 4.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 1.25e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 7.5e0
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 2.25e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CT
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-183481943-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481941
    reference: chr 1
allele count: 508
allele frequency: 4.047808764940239e-2
allele num: 12550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3047_-65-3046delTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-10_30-9delTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-10_30-9delTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-10_84-9delTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-10_117-9delTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-10_117-9delTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3047_-65-3046delTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-10_30-9delTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-10_-97-9delTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-10_30-9delTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-10_105-9delTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-10_117-9delTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-10_30-9delTT
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 2.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 2.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 4.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 1.25e1
  variant carriers: 90
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: CTT
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

1-183481943-CTTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481939
    reference: chr 1
allele count: 29
allele frequency: 2.310756972111554e-3
allele num: 12550
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 46291
  bin: 2.5e0
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 4
  allele frequency: 1.956947162426614e-3
  allele num: 2044
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 3
  allele frequency: 5.928853754940711e-3
  allele num: 506
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 114
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 3.676470588235294e-3
  allele num: 544
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CTTTT
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

1-183481961-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481961
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481962
    reference: chr 1
allele count: 1
allele frequency: 8.63751792284969e-6
allele num: 115774
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-11_117-10insC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-11_-97-10insC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-11_30-10insC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-11_30-10insC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-11_30-10insC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-11_117-10insC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-11_30-10insC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3048_-65-3047insC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-11_105-10insC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-11_30-10insC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-11_84-10insC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3048_-65-3047insC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-11_117-10insC
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

1-183481961-T-TTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481961
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481964
    reference: chr 1
allele count: 1
allele frequency: 8.63751792284969e-6
allele num: 115774
alternate allele: TTTC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-9_30-7dupTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-9_117-7dupTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-9_84-7dupTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-9_30-7dupTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-9_30-7dupTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-9_30-7dupTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-9_30-7dupTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-9_-97-7dupTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-9_105-7dupTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3046_-65-3044dupTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3046_-65-3044dupTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-9_117-7dupTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-9_117-7dupTCT
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.30-9_30-7dupTCT
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

1-183481961-TTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481961
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481958
    reference: chr 1
allele count: 1
allele frequency: 8.63751792284969e-6
allele num: 115774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-9_105-7delTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-9_30-7delTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-9_30-7delTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-9_117-7delTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3046_-65-3044delTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-9_84-7delTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3046_-65-3044delTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-9_117-7delTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-9_30-7delTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-9_-97-7delTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-9_30-7delTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-9_117-7delTCT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-9_30-7delTCT
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.30-9_30-7delTCT
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: TTTC
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-183481962-T-TTTTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481962
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481966
    reference: chr 1
allele count: 1
allele frequency: 8.620689655172414e-6
allele num: 116000
alternate allele: TTTTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3046_-65-3045insTTAT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3046_-65-3045insTTAT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-9_30-8insTTAT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-9_30-8insTTAT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-9_30-8insTTAT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-9_84-8insTTAT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-9_117-8insTTAT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-9_30-8insTTAT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-9_105-8insTTAT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-9_117-8insTTAT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-9_117-8insTTAT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-9_-97-8insTTAT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-9_30-8insTTAT
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-183481963-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481963
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481964
    reference: chr 1
allele count: 4
allele frequency: 3.530512453882681e-5
allele num: 113298
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-8dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-8dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-8dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3045dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-8dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-8dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-8dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-8dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-8dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-8dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-8dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-8dupC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3045dupC
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.30-8dupC
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

1-183481963-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481963
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481962
    reference: chr 1
allele count: 16
allele frequency: 1.412204981553072e-4
allele num: 113298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3045delC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-8delC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-8delC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-8delC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3045delC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-8delC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-8delC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-8delC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-8delC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-8delC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-8delC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-8delC
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-8delC
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.30-8delC
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: TC
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-183481964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481964
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481964
    reference: chr 1
allele count: 770
allele frequency: 1.68291296935787e-2
allele num: 45754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3045C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3045C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-8C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-8C>T
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 4.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 9304
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 4.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 10338
  bin: 1.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
hgvs: c.30-8C>T
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

1-183481966-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481966
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481966
    reference: chr 1
allele count: 1
allele frequency: 9.086118228570391e-6
allele num: 110058
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-6A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-6A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-6A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3043A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-6A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-6A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-6A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-6A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-6A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-6A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-6A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3043A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-6A>G
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.30-6A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

1-183481966-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481966
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481966
    reference: chr 1
allele count: 679
allele frequency: 6.169474277199295e-3
allele num: 110058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-6A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-6A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-6A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-6A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3043A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-6A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-6A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3043A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-6A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-6A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-6A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-6A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-6A>T
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
hgvs: c.30-6A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-183481968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481968
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481968
    reference: chr 1
allele count: 64
allele frequency: 5.557388721974262e-4
allele num: 115162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3041C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30-4C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117-4C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30-4C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30-4C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117-4C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30-4C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84-4C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97-4C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117-4C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30-4C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105-4C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3041C>T
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 14332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.30-4C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

1-183481972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481972
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481972
    reference: chr 1
allele count: 5
allele frequency: 4.2725548168783e-5
allele num: 117026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.30G>A
  hgvsp: ENST00000347615.2:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.117G>A
  hgvsp: ENST00000507691.2:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.30G>A
  hgvsp: ENST00000515829.2:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.84G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-97G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.117G>A
  hgvsp: ENST00000367537.3:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.105G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3037G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.30G>A
  hgvsp: ENST00000444547.2:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.117G>A
  hgvsp: ENST00000502375.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3037G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.30G>A
  hgvsp: ENST00000440812.3:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.30G>A
  hgvsp: ENST00000507469.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18354
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.30G>A
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-183481978-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481978
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481978
    reference: chr 1
allele count: 1
allele frequency: 8.501810885718658e-6
allele num: 117622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.36A>G
  hgvsp: ENST00000347615.2:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.111A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.90A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.36A>G
  hgvsp: ENST00000507469.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.123A>G
  hgvsp: ENST00000367537.3:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.36A>G
  hgvsp: ENST00000440812.3:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.123A>G
  hgvsp: ENST00000507691.2:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.123A>G
  hgvsp: ENST00000502375.1:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3031A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.36A>G
  hgvsp: ENST00000444547.2:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3031A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-91A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.36A>G
  hgvsp: ENST00000515829.2:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala12Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-183481999-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183481999
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183481999
    reference: chr 1
allele count: 1
allele frequency: 8.436113313874031e-6
allele num: 118538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.144G>T
  hgvsp: ENSP00000422742.2:p.Met48Ile
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.111G>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-3010G>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.57G>T
  hgvsp: ENSP00000421358.2:p.Met19Ile
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.132G>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.57G>T
  hgvsp: ENSP00000400220.2:p.Met19Ile
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.57G>T
  hgvsp: ENSP00000425133.1:p.Met19Ile
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.144G>T
  hgvsp: ENSP00000422056.1:p.Met48Ile
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.57G>T
  hgvsp: ENSP00000410254.3:p.Met19Ile
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-70G>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-3010G>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.144G>T
  hgvsp: ENSP00000356507.3:p.Met48Ile
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.57G>T
  hgvsp: ENSP00000340766.2:p.Met19Ile
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met19Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-183482015-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183482015
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183482015
    reference: chr 1
allele count: 13
allele frequency: 1.118010285694628e-4
allele num: 116278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.148+12C>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.61+12C>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.148C>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.61+12C>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.61+12C>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.148+12C>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.61+12C>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.115+12C>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-2994C>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-66+12C>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-2994C>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.61+12C>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.148+12C>G
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8908
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-183482016-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183482016
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183482016
    reference: chr 1
allele count: 1
allele frequency: 8.468834688346883e-6
allele num: 118080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.148+13T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-2993T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.115+13T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-66+13T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.148+13T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.149T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.61+13T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.61+13T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.148+13T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.61+13T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.61+13T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-2993T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.61+13T>G
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-183482018-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183482018
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183482018
    reference: chr 1
allele count: 1
allele frequency: 8.513826454161559e-6
allele num: 117456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.61+15A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-66+15A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.148+15A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-2991A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.61+15A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.115+15A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.148+15A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.61+15A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.148+15A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.151A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.61+15A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.61+15A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-2991A>G
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-183482018-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183482018
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183482018
    reference: chr 1
allele count: 8
allele frequency: 6.811061163329247e-5
allele num: 117456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.61+15A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.115+15A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.61+15A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-66+15A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.148+15A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.148+15A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.151A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-2991A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.61+15A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-2991A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.148+15A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.61+15A>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.61+15A>T
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-183482018-ATTTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183482018
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183482014
    reference: chr 1
allele count: 1
allele frequency: 8.513826454161559e-6
allele num: 117456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.61+19_61+22delCTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.148+19_148+22delCTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.155_158delCTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.61+19_61+22delCTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-66+19_-66+22delCTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.148+19_148+22delCTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.148+19_148+22delCTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.61+19_61+22delCTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.61+19_61+22delCTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.61+19_61+22delCTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-2987_-65-2984delCTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.115+19_115+22delCTTT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-2987_-65-2984delCTTT
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: ATTTC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-183482022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183482022
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183482022
    reference: chr 1
allele count: 9
allele frequency: 7.791128501679422e-5
allele num: 115516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.61+19C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.61+19C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.115+19C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.148+19C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.61+19C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.148+19C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.61+19C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-2987C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-2987C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.61+19C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-66+19C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.155C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.148+19C>T
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

1-183482028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183482028
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183482028
    reference: chr 1
allele count: 17
allele frequency: 1.470562793031262e-4
allele num: 115602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.61+25C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-66+25C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.115+25C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.61+25C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.148+25C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.61+25C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-2981C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.148+25C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.161C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-2981C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.148+25C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.61+25C>T
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.61+25C>T
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13780
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-183482034-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183482034
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183482034
    reference: chr 1
allele count: 1
allele frequency: 8.910432334176854e-6
allele num: 112228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.148+31A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-2975A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.167A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-66+31A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.148+31A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.61+31A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-2975A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.115+31A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.148+31A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.61+31A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.61+31A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.61+31A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.61+31A>G
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

1-183482040-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183482040
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183482040
    reference: chr 1
allele count: 2
allele frequency: 1.8007959518107e-5
allele num: 111062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.148+37T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.61+37T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.173T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.148+37T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.61+37T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.148+37T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.61+37T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.61+37T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.61+37T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-66+37T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.115+37T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-2969T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-2969T>G
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-183482043-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183482043
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183482043
    reference: chr 1
allele count: 1
allele frequency: 9.21421200058971e-6
allele num: 108528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.148+40A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-66+40A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-2966A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.176A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.61+40A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.148+40A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.115+40A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.61+40A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.148+40A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.61+40A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-2966A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.61+40A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.61+40A>G
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-183482045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183482045
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183482045
    reference: chr 1
allele count: 2
allele frequency: 1.859116176169849e-5
allele num: 107578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-66+42A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.61+42A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-2964A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.178A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.61+42A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.115+42A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.148+42A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-2964A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.61+42A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.61+42A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.148+42A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.61+42A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.148+42A>G
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

1-183482049-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183482049
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183482049
    reference: chr 1
allele count: 1
allele frequency: 9.472029098073389e-6
allele num: 105574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.148+46A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-66+46A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.61+46A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.148+46A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.61+46A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-2960A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-2960A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.115+46A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.61+46A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000493609
  gene symbol: SMG7
  hgvsc: ENST00000493609.1:n.182A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.61+46A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.148+46A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.61+46A>G
  variant of: http://identifiers.org/hgnc/16792
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12091
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

1-183484962-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183484962
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183484962
    reference: chr 1
allele count: 1
allele frequency: 8.570449091532397e-6
allele num: 116680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.116-47G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.62-47G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.149-47G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-47G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.149-47G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.62-47G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-65-47G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.62-47G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.62-47G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.149-47G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-47G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.62-47G>A
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10054
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-183484967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183484967
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183484967
    reference: chr 1
allele count: 1
allele frequency: 8.55622294094495e-6
allele num: 116874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.62-42G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-65-42G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.62-42G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.62-42G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.62-42G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.116-42G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-42G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.149-42G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.62-42G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.149-42G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-42G>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.149-42G>A
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-183484969-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183484969
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183484969
    reference: chr 1
allele count: 1
allele frequency: 8.550370231031004e-6
allele num: 116954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.149-40T>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.62-40T>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.116-40T>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-40T>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.62-40T>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-65-40T>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.149-40T>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.62-40T>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.149-40T>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.62-40T>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-40T>A
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.62-40T>A
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-183484972-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183484972
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183484972
    reference: chr 1
allele count: 15
allele frequency: 1.281919803097118e-4
allele num: 117012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.62-37A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.149-37A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.62-37A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.116-37A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.149-37A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.149-37A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.62-37A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-37A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.62-37A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-37A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.62-37A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-65-37A>G
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11366
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11070
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-183484973-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183484973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183484973
    reference: chr 1
allele count: 1
allele frequency: 8.541022531217438e-6
allele num: 117082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.149-36T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.149-36T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.62-36T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-36T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-36T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.149-36T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-65-36T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.62-36T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.116-36T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.62-36T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.62-36T>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.62-36T>G
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-183484974-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183484974
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183484975
    reference: chr 1
allele count: 1
allele frequency: 8.547446877617655e-6
allele num: 116994
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.62-34dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.62-34dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.149-34dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.62-34dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-34dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.116-34dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.62-34dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-34dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.149-34dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.149-34dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-65-34dupT
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.62-34dupT
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

1-183484976-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183484976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 183484976
    reference: chr 1
allele count: 1
allele frequency: 8.535919147773831e-6
allele num: 117152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422056
  ensembl transcript: ENST00000502375
  gene symbol: SMG7
  hgvsc: ENST00000502375.1:c.149-33A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000388390
  ensembl transcript: ENST00000419169
  gene symbol: SMG7
  hgvsc: ENST00000419169.1:c.-65-33A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000421358
  ensembl transcript: ENST00000515829
  gene symbol: SMG7
  hgvsc: ENST00000515829.2:c.62-33A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000410254
  ensembl transcript: ENST00000440812
  gene symbol: SMG7
  hgvsc: ENST00000440812.3:c.62-33A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000426915
  ensembl transcript: ENST00000508461
  gene symbol: SMG7
  hgvsc: ENST00000508461.1:c.-65-33A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000340766
  ensembl transcript: ENST00000347615
  gene symbol: SMG7
  hgvsc: ENST00000347615.2:c.62-33A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl transcript: ENST00000367538
  gene symbol: SMG7
  hgvsc: ENST00000367538.1:n.116-33A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000422742
  ensembl transcript: ENST00000507691
  gene symbol: SMG7
  hgvsc: ENST00000507691.2:c.149-33A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000407629
  ensembl transcript: ENST00000456731
  gene symbol: SMG7
  hgvsc: ENST00000456731.2:c.-65-33A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000356507
  ensembl transcript: ENST00000367537
  gene symbol: SMG7
  hgvsc: ENST00000367537.3:c.149-33A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000400220
  ensembl transcript: ENST00000444547
  gene symbol: SMG7
  hgvsc: ENST00000444547.2:c.62-33A>G
  variant of: http://identifiers.org/hgnc/16792
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116698
  ensembl protein: ENSP00000425133
  ensembl transcript: ENST00000507469
  gene symbol: SMG7
  hgvsc: ENST00000507469.1:c.62-33A>G
  variant of: http://identifiers.org/hgnc/16792
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.086e0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 9.255000000000001e0

DP
type: SiteQuality
SIO_000300: 3.136364e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.236e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.281e0

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

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: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 3.136417e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 3.699e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.436e1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

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: 1.498935755613514e-5
allele num: 66714
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: 11578
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

QD
type: SiteQuality
SIO_000300: 1.316e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 3.55e-1

FS
type: SiteQuality
SIO_000300: 7.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.136692e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

DP
type: SiteQuality
SIO_000300: 3.13686e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.356e1

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.136917e6

FS
type: SiteQuality
SIO_000300: 1.627e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.271e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.183e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

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: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

DP
type: SiteQuality
SIO_000300: 3.137083e6

VQSLOD
type: SiteQuality
SIO_000300: 1.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.229e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.756e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.078e0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.071e0

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.137035e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

MQ
type: SiteQuality
SIO_000300: 5.988e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
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: 6612
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: 11578
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.68e0

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

FS
type: SiteQuality
SIO_000300: 4.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.13708e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 3.136961e6

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 4.858e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.253e1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

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: 6612
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.555e0

QD
type: SiteQuality
SIO_000300: 9.43e0

FS
type: SiteQuality
SIO_000300: 1.371e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

VQSLOD
type: SiteQuality
SIO_000300: -1.288e0

DP
type: SiteQuality
SIO_000300: 3.136862e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.46e-1

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.354e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.886e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

DP
type: SiteQuality
SIO_000300: 3.13681e6

MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.136389e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

QD
type: SiteQuality
SIO_000300: 7.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 1

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

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

FS
type: SiteQuality
SIO_000300: 6.741e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

DP
type: SiteQuality
SIO_000300: 3.136384e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.961e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.484e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 3.072e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 6610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.718e0

MQ
type: SiteQuality
SIO_000300: 5.53e1

FS
type: SiteQuality
SIO_000300: 2.387e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 3.136331e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.819e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

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: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 3.136331e6

MQRankSum
type: SiteQuality
SIO_000300: -4.718e0

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

FS
type: SiteQuality
SIO_000300: 2.387e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.819e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

MQ
type: SiteQuality
SIO_000300: 5.53e1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: -4.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 4.906e0

QD
type: SiteQuality
SIO_000300: 1.054e1

MQ
type: SiteQuality
SIO_000300: 5.756e1

MQRankSum
type: SiteQuality
SIO_000300: -1.055e0

DP
type: SiteQuality
SIO_000300: 3.133731e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -2.068e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
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: 11576
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

FS
type: SiteQuality
SIO_000300: 1.601e0

QD
type: SiteQuality
SIO_000300: 1.291e1

DP
type: SiteQuality
SIO_000300: 3.13092e6

GenotypeQuality
all individuals: 304
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3602
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6947
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1208
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

FS
type: SiteQuality
SIO_000300: 4.435e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.1157e4

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.483e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
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SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 5.57e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1208
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1534
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.435e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 1.01e0

InbreedingCoeff
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SIO_000300: 1.483e-1

ReadPosRankSum
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SIO_000300: 2.31e-1

DP
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SIO_000300: 9.1157e4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

MQRankSum
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
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SIO_000300: 5.57e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16

GenotypeQuality
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GenotypeQuality
all individuals: 32
bin: 7.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.615384615384616e-3
allele num: 104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 5.867014341590613e-3
allele num: 1534
num of homozygotes: 0

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

South Asian
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allele count: 26
allele frequency: 2.152317880794702e-2
allele num: 1208
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 5.813953488372093e-3
allele num: 172
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.435e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
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SIO_000300: -7.5e-1

InbreedingCoeff
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SIO_000300: 1.483e-1

QD
type: SiteQuality
SIO_000300: 5.57e0

DP
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SIO_000300: 9.1157e4

MQRankSum
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 3.706449221645663e-4
allele num: 2698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Finnish)
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: 74
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2964
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.21729e5

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

QD
type: SiteQuality
SIO_000300: 1.519e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3176
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2738
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
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SIO_000300: -2.714e0

ClippingRankSum
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SIO_000300: 4.21e-1

FS
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QD
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MQ
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MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.23707e5

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3204
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

South Asian
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: 80
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
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BaseQRankSum
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SIO_000300: 7.27e-1

ReadPosRankSum
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SIO_000300: 7.27e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.037e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.23829e5

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 4.734848484848485e-4
allele num: 2112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
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East Asian
type: Population
allele count: 1
allele frequency: 2.577319587628866e-3
allele num: 388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3286
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.18668e5

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.62e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -6.29e-2

BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 196
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.353179972936401e-4
allele num: 7390
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.83e-2

ReadPosRankSum
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FS
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DP
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QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
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allele frequency: 1.314060446780552e-4
allele num: 7610
num of homozygotes: 0

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

Other
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num of homozygotes: 0

Latino
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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DP
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 2
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 frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

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

FS
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SIO_000300: 0.0e0

ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

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

Latino
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allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.180405272476884e-4
allele num: 50830
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 802
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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GenotypeDepth
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variant carriers: 12

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele count: 11
allele frequency: 9.649122807017543e-2
allele num: 114
num of homozygotes: 4

South Asian
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allele frequency: 3.473581213307241e-2
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East Asian
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allele count: 69
allele frequency: 1.363636363636364e-1
allele num: 506
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European (Finnish)
type: Population
allele count: 95
allele frequency: 9.099616858237548e-2
allele num: 1044
num of homozygotes: 6

Latino
type: Population
allele count: 26
allele frequency: 4.779411764705882e-2
allele num: 544
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African
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allele count: 59
allele frequency: 3.344671201814059e-2
allele num: 1764
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European (Non-Finnish)
type: Population
allele count: 415
allele frequency: 6.351392715029079e-2
allele num: 6534
num of homozygotes: 72

DP
type: SiteQuality
SIO_000300: 1.957432e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQ
type: SiteQuality
SIO_000300: 5.846e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.063e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.15e0

FS
type: SiteQuality
SIO_000300: 1.131e0

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.34e0

GenotypeDepth
all individuals: 496
bin: 8.75e1
variant carriers: 8

GenotypeDepth
all individuals: 844
bin: 7.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1049
bin: 7.25e1
variant carriers: 6

GenotypeDepth
all individuals: 1208
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1359
bin: 7.5e0
variant carriers: 87

GenotypeQuality
all individuals: 751
bin: 1.75e1
variant carriers: 64

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 29

GenotypeQuality
all individuals: 1281
bin: 2.25e1
variant carriers: 53

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 23

GenotypeQuality
all individuals: 46291
bin: 2.5e0
variant carriers: 94

GenotypeQuality
all individuals: 664
bin: 3.75e1
variant carriers: 39

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 29

GenotypeQuality
all individuals: 418
bin: 6.25e1
variant carriers: 17

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 9

GenotypeQuality
all individuals: 680
bin: 2.75e1
variant carriers: 44

GenotypeQuality
all individuals: 888
bin: 1.25e1
variant carriers: 97

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 10

GenotypeQuality
all individuals: 737
bin: 3.25e1
variant carriers: 45

GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 375
bin: 4.75e1
variant carriers: 39

GenotypeQuality
all individuals: 973
bin: 9.75e1
variant carriers: 44

GenotypeQuality
all individuals: 275
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 195
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 206
bin: 7.75e1
variant carriers: 6

African
type: Population
allele count: 21
allele frequency: 1.19047619047619e-2
allele num: 1764
num of homozygotes: 1

South Asian
type: Population
allele count: 57
allele frequency: 2.788649706457925e-2
allele num: 2044
num of homozygotes: 15

Latino
type: Population
allele count: 15
allele frequency: 2.757352941176471e-2
allele num: 544
num of homozygotes: 4

East Asian
type: Population
allele count: 18
allele frequency: 3.557312252964427e-2
allele num: 506
num of homozygotes: 6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 34
allele frequency: 3.256704980842912e-2
allele num: 1044
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 154
allele frequency: 2.356902356902357e-2
allele num: 6534
num of homozygotes: 24

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQ
type: SiteQuality
SIO_000300: 5.846e1

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.15e0

QD
type: SiteQuality
SIO_000300: 5.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
SIO_000300: 1.957432e6

FS
type: SiteQuality
SIO_000300: 1.131e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.063e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 1752
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 8655
bin: 1.75e1
variant carriers: 38

GenotypeDepth
all individuals: 1094
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 689
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 195
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 664
bin: 3.75e1
variant carriers: 9

GenotypeQuality
all individuals: 46291
bin: 2.5e0
variant carriers: 25

GenotypeQuality
all individuals: 737
bin: 3.25e1
variant carriers: 21

GenotypeQuality
all individuals: 680
bin: 2.75e1
variant carriers: 21

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 751
bin: 1.75e1
variant carriers: 20

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 14

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1359
bin: 7.5e0
variant carriers: 22

GenotypeQuality
all individuals: 418
bin: 6.25e1
variant carriers: 8

GenotypeQuality
all individuals: 973
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 12

GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1281
bin: 2.25e1
variant carriers: 29

GenotypeQuality
all individuals: 206
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 375
bin: 4.75e1
variant carriers: 19

GenotypeQuality
all individuals: 275
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 888
bin: 1.25e1
variant carriers: 21

Latino
type: Population
allele count: 5
allele frequency: 9.191176470588236e-3
allele num: 544
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 16
allele frequency: 1.532567049808429e-2
allele num: 1044
num of homozygotes: 2

South Asian
type: Population
allele count: 50
allele frequency: 2.446183953033268e-2
allele num: 2044
num of homozygotes: 10

Other
type: Population
allele count: 3
allele frequency: 2.631578947368421e-2
allele num: 114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 92
allele frequency: 1.408019589837772e-2
allele num: 6534
num of homozygotes: 19

African
type: Population
allele count: 12
allele frequency: 6.802721088435374e-3
allele num: 1764
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 9.881422924901186e-3
allele num: 506
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.846e1

DP
type: SiteQuality
SIO_000300: 1.957432e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.063e-1

FS
type: SiteQuality
SIO_000300: 1.131e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.15e0

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

QD
type: SiteQuality
SIO_000300: 5.34e0

GenotypeDepth
all individuals: 368
bin: 9.25e1
variant carriers: 8

GenotypeDepth
all individuals: 6140
bin: 2.75e1
variant carriers: 91

GenotypeDepth
all individuals: 496
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1976
bin: 9.75e1
variant carriers: 58

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 51

GenotypeQuality
all individuals: 418
bin: 6.25e1
variant carriers: 27

GenotypeQuality
all individuals: 46291
bin: 2.5e0
variant carriers: 65

GenotypeQuality
all individuals: 973
bin: 9.75e1
variant carriers: 60

GenotypeQuality
all individuals: 275
bin: 6.75e1
variant carriers: 26

GenotypeQuality
all individuals: 751
bin: 1.75e1
variant carriers: 74

GenotypeQuality
all individuals: 680
bin: 2.75e1
variant carriers: 70

GenotypeQuality
all individuals: 375
bin: 4.75e1
variant carriers: 72

GenotypeQuality
all individuals: 737
bin: 3.25e1
variant carriers: 95

GenotypeQuality
all individuals: 888
bin: 1.25e1
variant carriers: 77

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 48

GenotypeQuality
all individuals: 1359
bin: 7.5e0
variant carriers: 70

GenotypeQuality
all individuals: 206
bin: 7.75e1
variant carriers: 22

GenotypeQuality
all individuals: 664
bin: 3.75e1
variant carriers: 91

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 10

GenotypeQuality
all individuals: 1281
bin: 2.25e1
variant carriers: 92

GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 12

GenotypeQuality
all individuals: 195
bin: 7.25e1
variant carriers: 17

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 11

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 80

South Asian
type: Population
allele count: 25
allele frequency: 1.223091976516634e-2
allele num: 2044
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 3.860294117647059e-2
allele num: 544
num of homozygotes: 0

African
type: Population
allele count: 122
allele frequency: 6.91609977324263e-2
allele num: 1764
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 2.569169960474308e-2
allele num: 506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 343
allele frequency: 5.249464340373431e-2
allele num: 6534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 149
allele frequency: 1.4272030651341e-1
allele num: 1044
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 7.017543859649122e-2
allele num: 114
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.131e0

MQ
type: SiteQuality
SIO_000300: 5.846e1

QD
type: SiteQuality
SIO_000300: 5.34e0

VQSLOD
type: SiteQuality
SIO_000300: 7.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.063e-1

DP
type: SiteQuality
SIO_000300: 1.957432e6

GenotypeDepth
all individuals: 8655
bin: 1.75e1
variant carriers: 113

GenotypeDepth
all individuals: 496
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1289
bin: 5.75e1
variant carriers: 24

GenotypeDepth
all individuals: 2306
bin: 4.25e1
variant carriers: 23

GenotypeQuality
all individuals: 973
bin: 9.75e1
variant carriers: 66

GenotypeQuality
all individuals: 206
bin: 7.75e1
variant carriers: 23

GenotypeQuality
all individuals: 737
bin: 3.25e1
variant carriers: 43

GenotypeQuality
all individuals: 1281
bin: 2.25e1
variant carriers: 34

GenotypeQuality
all individuals: 888
bin: 1.25e1
variant carriers: 28

GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 20

GenotypeQuality
all individuals: 46291
bin: 2.5e0
variant carriers: 87

GenotypeQuality
all individuals: 751
bin: 1.75e1
variant carriers: 31

GenotypeQuality
all individuals: 1359
bin: 7.5e0
variant carriers: 27

GenotypeQuality
all individuals: 275
bin: 6.75e1
variant carriers: 33

GenotypeQuality
all individuals: 664
bin: 3.75e1
variant carriers: 47

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 47

GenotypeQuality
all individuals: 680
bin: 2.75e1
variant carriers: 33

GenotypeQuality
all individuals: 195
bin: 7.25e1
variant carriers: 31

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 17

GenotypeQuality
all individuals: 375
bin: 4.75e1
variant carriers: 32

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 25

GenotypeQuality
all individuals: 418
bin: 6.25e1
variant carriers: 25

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 29

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 39

African
type: Population
allele count: 102
allele frequency: 5.782312925170068e-2
allele num: 1764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 263
allele frequency: 4.025099479644934e-2
allele num: 6534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 99
allele frequency: 9.482758620689655e-2
allele num: 1044
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 6.360078277886497e-3
allele num: 2044
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.754385964912281e-2
allele num: 114
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.976284584980237e-2
allele num: 506
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 3.492647058823529e-2
allele num: 544
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.063e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
SIO_000300: 1.957432e6

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.15e0

QD
type: SiteQuality
SIO_000300: 5.34e0

MQ
type: SiteQuality
SIO_000300: 5.846e1

African
type: Population
allele count: 5
allele frequency: 2.834467120181406e-3
allele num: 1764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.915708812260536e-3
allele num: 1044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.989592898683808e-3
allele num: 6534
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

QD
type: SiteQuality
SIO_000300: 5.34e0

VQSLOD
type: SiteQuality
SIO_000300: 7.15e0

DP
type: SiteQuality
SIO_000300: 1.957432e6

MQ
type: SiteQuality
SIO_000300: 5.846e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.063e-1

FS
type: SiteQuality
SIO_000300: 1.131e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 7792
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 913
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4810
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3762
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4503
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.926543577526305e-5
allele num: 10074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.457e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 7.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

FS
type: SiteQuality
SIO_000300: 2.1178e1

DP
type: SiteQuality
SIO_000300: 2.389626e6

GenotypeDepth
all individuals: 4810
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7792
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 924
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 820
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1614
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1271
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1537
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4503
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 1
allele frequency: 8.962179602079225e-5
allele num: 11158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62658
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: 8324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 2.1178e1

VQSLOD
type: SiteQuality
SIO_000300: -8.457e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 2.389626e6

QD
type: SiteQuality
SIO_000300: 7.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeDepth
all individuals: 215
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 820
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 924
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 913
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 948
bin: 7.25e1
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.16294835449279e-5
allele num: 16226
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
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InbreedingCoeff
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FS
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MQ
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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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GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.59454029403323e-5
allele num: 62714
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

FS
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SIO_000300: 1.04811e2

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.268935307770259e-5
allele num: 61182
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.43427458617332e-4
allele num: 8216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10950
num of homozygotes: 0

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

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

South Asian
type: Population
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allele frequency: 0.0e0
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DP
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SIO_000300: 2.38651e6

FS
type: SiteQuality
SIO_000300: 1.01973e2

ClippingRankSum
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InbreedingCoeff
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MQRankSum
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SIO_000300: 9.93e-1

VQSLOD
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MQ
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SIO_000300: 5.819e1

ReadPosRankSum
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SIO_000300: -5.46e-1

QD
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SIO_000300: 6.5e-1

BaseQRankSum
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SIO_000300: -1.641e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.815409309791332e-4
allele num: 6230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.132420091324201e-5
allele num: 10950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 12
allele frequency: 1.961361184662156e-4
allele num: 61182
num of homozygotes: 0

MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.819e1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.01973e2

InbreedingCoeff
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SIO_000300: 6.5e-3

QD
type: SiteQuality
SIO_000300: 6.5e-1

BaseQRankSum
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SIO_000300: -1.641e0

DP
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SIO_000300: 2.38651e6

ClippingRankSum
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SIO_000300: 1.57e0

ReadPosRankSum
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SIO_000300: -5.46e-1

GenotypeDepth
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variant carriers: 30

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 585

Latino
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allele count: 35
allele frequency: 9.625962596259627e-3
allele num: 3636
num of homozygotes: 0

African
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allele count: 38
allele frequency: 6.921675774134791e-3
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South Asian
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allele count: 113
allele frequency: 2.496685815289439e-2
allele num: 4526
num of homozygotes: 0

European (Finnish)
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allele count: 143
allele frequency: 5.607843137254902e-2
allele num: 2550
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Other
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allele num: 360
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East Asian
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allele count: 26
allele frequency: 7.897934386391251e-3
allele num: 3292
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European (Non-Finnish)
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allele count: 405
allele frequency: 1.563706563706564e-2
allele num: 25900
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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allele count: 0
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Latino
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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MQRankSum
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FS
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MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

European (Non-Finnish)
type: Population
allele count: 343
allele frequency: 5.730994152046784e-3
allele num: 59850
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 2.451442579671884e-3
allele num: 10606
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 9.615384615384616e-3
allele num: 832
num of homozygotes: 0

South Asian
type: Population
allele count: 106
allele frequency: 6.847545219638243e-3
allele num: 15480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 140
allele frequency: 2.603198214949795e-2
allele num: 5378
num of homozygotes: 0

African
type: Population
allele count: 35
allele frequency: 3.525382755842063e-3
allele num: 9928
num of homozygotes: 0

East Asian
type: Population
allele count: 21
allele frequency: 2.630260521042084e-3
allele num: 7984
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.806e1

QD
type: SiteQuality
SIO_000300: 4.9e0

VQSLOD
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SIO_000300: -2.557e1

FS
type: SiteQuality
SIO_000300: 6.929000000000001e1

DP
type: SiteQuality
SIO_000300: 1.818482e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.339e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e0

GenotypeDepth
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variant carriers: 11

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 239
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variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 39
allele frequency: 6.634909833276624e-3
allele num: 5878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.196458482890644e-4
allele num: 8358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.234415504258734e-4
allele num: 16202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.517636148508203e-4
allele num: 62542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.922e0

VQSLOD
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SIO_000300: -2.512e1

MQ
type: SiteQuality
SIO_000300: 5.748e1

DP
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SIO_000300: 1.813369e6

FS
type: SiteQuality
SIO_000300: 7.0376e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

QD
type: SiteQuality
SIO_000300: 3.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1900
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GenotypeQuality
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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: 1219
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.880965891179623e-5
allele num: 63444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.279e0

FS
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.731e1

VQSLOD
type: SiteQuality
SIO_000300: -9.258999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
SIO_000300: 2.225e1

DP
type: SiteQuality
SIO_000300: 1.845263e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 7491
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1911
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GenotypeQuality
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GenotypeQuality
all individuals: 22
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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: 598
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 982
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GenotypeQuality
all individuals: 2662
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565386180770796e-5
allele num: 63882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.802e0

DP
type: SiteQuality
SIO_000300: 1.87427e6

QD
type: SiteQuality
SIO_000300: 6.29e0

FS
type: SiteQuality
SIO_000300: 5.332e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.367e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.635e0

GenotypeDepth
all individuals: 1383
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548994702438118e-5
allele num: 64558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
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MQ
type: SiteQuality
SIO_000300: 6.191e1

FS
type: SiteQuality
SIO_000300: 5.246e0

VQSLOD
type: SiteQuality
SIO_000300: -4.619e-1

MQRankSum
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DP
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SIO_000300: 1.898245e6

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16326
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.361832782239018e-4
allele num: 8468
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Other
type: Population
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allele num: 876
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African
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allele count: 6
allele frequency: 6.103763987792472e-4
allele num: 9830
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.73798919738463e-5
allele num: 63318
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European (Finnish)
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allele count: 1
allele frequency: 1.617076326002587e-4
allele num: 6184
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FS
type: SiteQuality
SIO_000300: 3.27441e2

InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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QD
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MQ
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SIO_000300: 5.738e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 967
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64304
num of homozygotes: 0

Other
type: Population
allele count: 1
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allele num: 894
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10208
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

South Asian
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allele count: 0
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
type: SiteQuality
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QD
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 6.128953174797744e-5
allele num: 16316
num of homozygotes: 0

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

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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Other
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Latino
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African
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South Asian
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.56328164082041e-5
allele num: 63968
num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 62786
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Other
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East Asian
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allele num: 8374
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South Asian
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African
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allele frequency: 3.999200159968006e-4
allele num: 10002
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Latino
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MQ
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Other
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 62632
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Latino
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 8166
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.371203182415804e-5
allele num: 59326
num of homozygotes: 0

FS
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SIO_000300: 1.274e0

InbreedingCoeff
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SIO_000300: -3.5e-3

VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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SIO_000300: 7.27e-1

ClippingRankSum
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ReadPosRankSum
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DP
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SIO_000300: 1.586775e6

QD
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SIO_000300: 1.496e1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.397134083930399e-5
allele num: 15632
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: -8.33e-1

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 850
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European (Non-Finnish)
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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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East Asian
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Latino
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allele frequency: 1.82848784055586e-4
allele num: 10938
num of homozygotes: 0

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

QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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SIO_000300: 5.748e1

VQSLOD
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BaseQRankSum
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SIO_000300: 2.11e0

DP
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SIO_000300: 1.530349e6

InbreedingCoeff
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SIO_000300: -3.7e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15366
num of homozygotes: 0

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

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

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

African
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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: 1.79700977573318e-5
allele num: 55648
num of homozygotes: 0

Other
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allele count: 0
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DP
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ClippingRankSum
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.728e1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.529987760097919e-4
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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Latino
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Other
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South Asian
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele num: 11388
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele num: 9630
num of homozygotes: 0

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

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

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

Other
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 65194
num of homozygotes: 0

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

Latino
type: Population
allele count: 12
allele frequency: 1.053370786516854e-3
allele num: 11392
num of homozygotes: 0

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

African
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South Asian
type: Population
allele count: 2
allele frequency: 1.340302908457311e-4
allele num: 14922
num of homozygotes: 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: 1.533130960046607e-5
allele num: 65226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.136e1

FS
type: SiteQuality
SIO_000300: 1.616e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

DP
type: SiteQuality
SIO_000300: 1.931271e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

GenotypeDepth
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3772
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2404
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4649
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18645
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4495
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65242
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.77963125548727e-5
allele num: 11390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.933338e6

VQSLOD
type: SiteQuality
SIO_000300: -2.853e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.02e-1

FS
type: SiteQuality
SIO_000300: 3.385e0

QD
type: SiteQuality
SIO_000300: 3.24e0

MQ
type: SiteQuality
SIO_000300: 5.861e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-1

GenotypeDepth
all individuals: 7494
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4650
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18645
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532848953064165e-5
allele num: 65238
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.936727e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

FS
type: SiteQuality
SIO_000300: 5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

GenotypeDepth
all individuals: 479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5177
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4690
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11005
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2958
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18655
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.77963125548727e-5
allele num: 11390
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.766e1

VQSLOD
type: SiteQuality
SIO_000300: -8.398e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

DP
type: SiteQuality
SIO_000300: 1.941874e6

FS
type: SiteQuality
SIO_000300: 0.0e0